Affinage

MYO7A

Unconventional myosin-VIIa · UniProt Q13402

Length
2215 aa
Mass
254.4 kDa
Annotated
2026-06-10
100 papers in source corpus 24 papers cited in narrative 25 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYO7A encodes an unconventional actin-based motor (myosin VIIA) that is essential for the structural integrity and mechanotransduction of cochlear and vestibular hair-cell stereociliary bundles and for melanosome and visual-cycle protein trafficking in the retinal pigment epithelium (PMID:39746042, PMID:17352418). In hair cells, MYO7A localizes to the upper tip-link insertion site and sustains mechanoelectrical transducer (MET) current amplitude and hair-bundle stiffness, while its motor domain drives proper stereocilia bundle morphogenesis and assembly (PMID:39746042, PMID:15389316, PMID:27013738); gene-replacement of mutant Myo7a in vivo restores MET currents, normal resting channel open probability, hair-bundle structure, and hearing thresholds, establishing that the cochlear phenotype is a direct, reversible consequence of motor dysfunction (PMID:41015536, PMID:39641274). Two tonotopically distributed isoforms with isoform-specific actomyosin interfaces and distinct ATPase activities tune tip-link tension, and motor-domain residues such as R668 are required for actin-activated ATPase activity (PMID:40236041, PMID:23383098). MYO7A also organizes the stereociliary scaffold by forming a stable complex with PDZD7 and is required for PDZD7 localization to the ankle-link region (PMID:27525485). In the RPE, MYO7A operates within a RAB27A–MYRIP–MYO7A complex to drive apical melanosome localization, participates in phagosome transport from apical to basal RPE, and is required for light-dependent translocation of the visual-cycle isomerase RPE65, with which it co-immunoprecipitates (PMID:17352418, PMID:21936790, PMID:21493626); in photoreceptors it acts cell-autonomously and functions as a selective barrier restricting opsin passage at the ciliary transition zone (PMID:18463160, PMID:21936790). Mutations spanning the motor domain, IQ/calmodulin-binding motifs, and tail domain, as well as splice- and synonymous-variant–induced exon skipping, cause a phenotypic spectrum of Usher syndrome type 1B, recessive deafness DFNB2, and dominant deafness DFNA11, graded by residual motor function and correct subcellular localization (PMID:9171833, PMID:15300860, PMID:18181211, PMID:36164746).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1997 Medium

    Established that MYO7A is a disease gene and that allelic heterogeneity produces distinct clinical outcomes, framing the question of how different mutations yield syndromic versus non-syndromic disease.

    Evidence Linkage and coding-exon sequencing in families with Usher syndrome 1B and isolated deafness DFNB2

    PMID:9171833

    Open questions at the time
    • Did not establish the protein's molecular activity or subcellular site of action
    • Splicing prediction not functionally tested
  2. 2004 Medium

    Linked specific MYO7A domains to dominant deafness mechanisms — disrupted calmodulin binding at IQ5 and predicted impairment of the motor power-stroke — beginning to map genotype to molecular defect.

    Evidence Calmodulin-competition/vasoconstriction assay for the IQ5 p.R853C mutant; molecular modeling of motor-domain mutations p.N458I and p.A230V

    PMID:15221449 PMID:15300860 PMID:16449806

    Open questions at the time
    • Motor-domain effects rested on modeling only, without enzymatic validation
    • Did not address how CaM loss alters motor mechanics in hair cells
  3. 2004 Medium

    Connected the MYO7A motor domain directly to stereocilia bundle morphogenesis in vivo, showing a point mutation alters bundle development and reduces protein levels.

    Evidence ENU-derived headbanger mouse (I178F): SEM of organ of Corti and utricle, protein quantification, auditory thresholds

    PMID:15389316

    Open questions at the time
    • Did not resolve whether the defect is loss of motor activity or protein instability
    • Molecular partners at the bundle not identified
  4. 2007 High

    Defined a molecular machine for RPE melanosome transport, placing MYO7A as the actin motor downstream of a RAB27A–MYRIP membrane-recruitment module.

    Evidence Live-cell imaging, fractionation, and Rab27a/Myo7a mutant mouse analysis of primary RPE

    PMID:17352418

    Open questions at the time
    • Direct biochemical reconstitution of the tripartite complex not shown
    • Mechanism coordinating actin and microtubule transport unresolved
  5. 2008 Medium

    Resolved the cellular origin of USH1B retinal disease and the basis of DFNB2 mildness — photoreceptor pathology is cell-autonomous, and DFNB2 alleles retain function by localizing correctly.

    Evidence Mosaic shaker1 retina analysis and human imaging; GFP-tagged DFNB2 vs USH1B allele localization in transfected hair cells

    PMID:18181211 PMID:18463160

    Open questions at the time
    • Did not quantify residual motor activity of DFNB2 alleles
    • Cell-autonomous mechanism in photoreceptors not molecularly defined
  6. 2009 Medium

    Provided in vivo confirmation that MYO7A is required for apical melanosome positioning in RPE, linking the motor to organelle distribution detectable by clinical imaging.

    Evidence Spectral confocal of ex vivo mouse retina, purified RPE melanosome analysis, in vivo scanning laser ophthalmoscopy in patients

    PMID:19324852

    Open questions at the time
    • Functional consequence of melanosome mislocalization for vision not established here
  7. 2011 High

    Expanded MYO7A's RPE roles to visual-cycle regulation, photoreceptor ciliary gating, and phagosome clearance, broadening its function beyond melanosome motility.

    Evidence RPE65 co-IP, localization, retinoid measurements, and opsin/phagosome localization in Myo7a-null mice

    PMID:21493626 PMID:21936790

    Open questions at the time
    • RPE65 interaction not resolved as direct vs indirect
    • Mechanism of the transition-zone barrier function unknown
  8. 2013 Medium

    Provided the first direct enzymatic evidence that a DFNA11 motor-domain mutation impairs catalytic activity, validating earlier modeling predictions.

    Evidence Actin-activated ATPase (NADH oxidation) assay comparing wild-type and p.R668H MYO7A

    PMID:23383098

    Open questions at the time
    • Single mutation tested; not linked to in vivo bundle mechanics
    • Dominant-negative mechanism not demonstrated
  9. 2016 Medium

    Identified MYO7A as a scaffolding organizer in stereocilia, required to localize PDZD7 to the ankle-link region, and uncovered a conserved non-sensory role in caspase signaling.

    Evidence Stereocilia complex isolation + MS + Myo7a-mutant co-localization for PDZD7; Drosophila genetics and mammalian Co-IP for caspase interactions

    PMID:26960254 PMID:27525485

    Open questions at the time
    • Mammalian MYO7A–CASPASE-8 interaction rests on a single pulldown
    • Physiological relevance of the caspase-adaptor role in mammals untested
  10. 2016 Medium

    Demonstrated causality and reversibility at the cellular level by correcting a patient MYO7A mutation and restoring stereocilia organization and electrophysiology in iPSC-derived hair cells.

    Evidence CRISPR/Cas9 isogenic correction in patient iPSCs, hair-cell differentiation, morphology, electrophysiology

    PMID:27013738

    Open questions at the time
    • In vitro hair-cell-like cells may not fully model mature cochlear hair cells
  11. 2025 High

    Defined MYO7A's role in mature hair cells and established isoform specialization — distinct tonotopic isoforms with different ATPase activities tune tip-link tension, while MYO7A sustains MET current and bundle stiffness but is dispensable for resting channel open probability.

    Evidence Postnatal conditional KO with electrophysiology, stiffness, RNA-seq; isoform-specific knock-in mice with cryo-EM structures and ATPase assays

    PMID:39746042 PMID:40236041

    Open questions at the time
    • Identity of the MYO7A-independent mechanism maintaining resting MET Po unknown
    • Isoform structural study is a preprint awaiting peer review
  12. 2025 High

    Established therapeutic proof-of-concept by showing AAV-delivered MYO7A restores IHC bundle structure, MET currents with normal resting open probability, and hearing, and that ectopic efferent plasticity is a direct downstream consequence of MET dysfunction.

    Evidence Dual-AAV gene delivery in shaker-1 mice with MET electrophysiology, ABR thresholds, fluid-jet stimulation, and synaptic morphology

    PMID:39641274 PMID:41015536

    Open questions at the time
    • OHC function not rescued, limiting threshold recovery
    • Durability and translatability of rescue not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How MYO7A motor mechanics, isoform-specific ATPase tuning, and its scaffolding interactions integrate to set tip-link tension and mechanotransduction in vivo, and how its distinct RPE trafficking roles are coordinated, remain incompletely resolved.
  • No integrated model linking isoform ATPase rates to measured tip-link tension in vivo
  • Direct vs indirect nature of the RPE65 interaction unresolved
  • Mechanism coordinating actin- and microtubule-based RPE transport unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003774 cytoskeletal motor activity 2 GO:0008092 cytoskeletal protein binding 2 GO:0060090 molecular adaptor activity 2 GO:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2 GO:0005929 cilium 1
Partners
CALM1CASP8MYRIPPDZD7RAB27ARPE65
Complex memberships
MYO7A-PDZD7 ankle-link complexRAB27A-MYRIP-MYO7A melanosome transport complex

Evidence

Reading pass · 25 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 MYO7A (myosin-VIIA) mutations cause both Usher syndrome type 1B (syndromic deafness with retinitis pigmentosa and vestibular dysfunction) and isolated autosomal recessive deafness DFNB2, establishing that different mutations in the same gene produce syndromic vs. non-syndromic phenotypes. A G-to-A transition at the last nucleotide of exon 15 was identified, predicted to decrease splicing efficiency. Sequence analysis of coding exons, linkage analysis, mutation characterization in affected family Nature genetics Medium 9171833
2004 A missense mutation (p.R853C) in the fifth IQ motif (IQ5) of MYO7A disrupts calmodulin (CaM) binding. Functional assay in smooth muscle cells showed wild-type IQ5 competes with myosin light chain kinase for CaM, but the p.R853C mutant IQ5 does not bind CaM constitutively, demonstrating that impaired CaM/MYO7A interaction causes autosomal dominant hearing loss (DFNA11). Expression of MYO7A IQ5-containing peptides in smooth muscle cells of microarteries; calmodulin-dependent vasoconstriction assay; functional competition assay Human mutation Medium 15300860
2004 A missense mutation (p.N458I) in the motor head domain of MYO7A predicted by molecular modeling (based on Dictyostelium myosin II crystal structure) to disrupt ATP/ADP binding and impair the myosin power-stroke, causing DFNA11 autosomal dominant hearing loss. Linkage analysis, MYO7A gene sequencing, molecular modeling of motor domain based on known myosin II crystal structure Human genetics Low 15221449
2006 A missense mutation (p.A230V) in the motor domain of MYO7A causes autosomal dominant non-syndromic hearing loss (DFNA11). Molecular modeling of the myosin VIIA motor domain provided evidence for significant functional effect of the substitution. Genome-wide scan, MYO7A sequencing, molecular modeling of motor domain Audiology & neuro-otology Low 16449806
2007 MYO7A participates in the apical localization of melanosomes in retinal pigment epithelium (RPE) cells via a RAB27A-MYRIP-MYO7A complex. Live-cell imaging, fractionation, and mutant mouse analyses demonstrated that RAB27A provides an essential link to the melanosome, MYRIP associates with melanosomes via RAB27A, and that MYO7A functions in melanosome motility in the apical RPE. Live-cell imaging of primary RPE cells, RPE cell fractionation, analysis of mutant mice (Rab27a and Myo7a mutants), immunolocalization Cell motility and the cytoskeleton High 17352418
2008 USH1B/MYO7A disease pathology begins in photoreceptors (cell-autonomous), not in the adjacent RPE, as demonstrated by mosaic retinas in Myo7a-deficient shaker1 mice where mutant photoreceptor phenotype was cell-autonomous and not secondary to mutant RPE cells. Mosaic retina analysis in Myo7a-deficient shaker1 mice, optical imaging of human USH1B retinas, visual function testing Human molecular genetics Medium 18463160
2008 A DFNB2 MYO7A allele (p.E1716del, three-nucleotide deletion in the tail domain) produces a protein that localizes correctly in transfected mouse hair cell stereocilia, unlike USH1B alleles which mislocalize. This demonstrates that DFNB2 alleles retain residual myosin VIIA function, explaining the less severe phenotype. GFP-tagged cDNA expression constructs in transfected mouse hair cells; fluorescence microscopy of stereociliary localization Human mutation Medium 18181211
2009 In Myo7a-null mouse RPE, melanosomes are mislocalized: fluorophores (melanosomes) are absent from apical processes of RPE, and NIR-autofluorescence (sourced from RPE and choroidal melanosomes) is abnormal in regions lacking photoreceptors in USH1B patients. This directly links MYO7A to melanosome localization in the apical RPE. Spectral deconvolution confocal microscopy of ex vivo mouse retinas, scanning laser ophthalmoscopy in USH1B patients, purified RPE melanosome spectral analysis Investigative ophthalmology & visual science Medium 19324852
2011 MYO7A is required for the light-dependent translocation of RPE65 (the key retinoid cycle isomerase) to the central region of RPE cells. In Myo7a-mutant mice, RPE65 is mislocalized in the light and degraded more rapidly, resulting in lower RPE65 levels and a deficiency in retinoid cycle activity. MYO7A and RPE65 were co-immunoprecipitated from RPE cell lysate, suggesting a direct or indirect interaction. Immunofluorescence localization in Myo7a-mutant and wild-type mice, RPE65 protein level quantification, retinyl ester measurement after photobleach, co-immunoprecipitation from RPE cell lysate Human molecular genetics High 21493626
2011 MYO7A in photoreceptor cells functions as a selective barrier for membrane proteins at the distal end of the transition zone of the cilium: in cells lacking MYO7A, opsin accumulates abnormally in the transition zone, indicating MYO7A restricts opsin passage at this site. Immunolocalization of opsin in Myo7a-null mouse photoreceptors Biochemical Society transactions Medium 21936790
2011 MYO7A participates in the removal of phagosomes from the apical RPE and their delivery to lysosomes in the basal RPE, functioning cooperatively with microtubule motors in this second role while competing with them in melanosome apical localization. Studies with MYO7A-null mice (phagosome localization analysis) Biochemical Society transactions Medium 21936790
2013 MYO7A motor domain mutation (p.R668H) significantly reduces actin-activated ATPase activity, demonstrating that the conserved R668 residue in the motor domain is required for ATPase function and that its disruption causes DFNA11 autosomal dominant hearing impairment. Actin-activated ATPase activity assay (NADH oxidation rate) comparing wild-type and p.R668H mutant MYO7A; molecular modeling PloS one Medium 23383098
2016 MYO7A forms a stable complex with PDZD7 (a paralog of USH1C and DFNB31) in stereocilia membrane fractions. MYO7A and PDZD7 interact in tissue-culture cells and co-localize to the ankle-link region of stereocilia in wild-type but not Myo7a mutant mice, establishing MYO7A as required for PDZD7 localization at the ankle link. Isolation of protein complexes from stereocilia membrane fractions, mass spectrometry quantification, co-localization in wild-type and Myo7a mutant mice, tissue-culture interaction assay eLife High 27525485
2016 The Drosophila ortholog of MYO7A (CRINKLED/CK) selectively interacts with the initiator caspase DRONC and acts as a substrate adaptor recruiting SHAGGY46/GSK3-β to DRONC, facilitating caspase-mediated cleavage and localized modulation of kinase activity. The mammalian MYO7A binds to and impinges on CASPASE-8, affecting RIPK1>CASPASE-8 signalling. Genetic loss-of-function in Drosophila (arista, border cells, wing disc), co-immunoprecipitation/interaction assays, caspase cleavage assay, mammalian MYO7A-CASPASE-8 binding assay Nature communications Medium 26960254
2016 Genetic correction of a MYO7A mutation (c.4118C>T) in patient-derived iPSCs using CRISPR/Cas9 restored normal stereocilia-like protrusion organization and electrophysiological function in derived hair cell-like cells, confirming that MYO7A is required for proper stereociliary bundle assembly and hair cell function. CRISPR/Cas9 gene correction in patient iPSCs, differentiation to hair cell-like cells, morphological assessment of stereocilia, electrophysiological recording Stem cells translational medicine Medium 27013738
2010 An exonic missense mutation (c.1935G>A, p.M645I) at the last nucleotide of exon 16 enhances a pre-existing minor alternative splicing event, promoting exon 16 exclusion rather than full exon inclusion. This partial splicing impairment causes a less severe (atypical USH/mild retinopathy) phenotype than USH1B-associated alleles. Confirmed by hybrid minigene splicing assay. Endogenous lymphoid RNA analysis, splicing minigene transfection assay, structural prediction of molecular model Molecular vision Medium 21031134
2011 Five putative splice-site mutations in MYO7A (c.2283-1G>T and c.5856G>A) and USH2A were shown by hybrid minigene assays to abolish consensus splice sites, producing exon skipping. This confirmed the pathogenic mechanism of these variants as loss of normal splicing. Hybrid minigene splicing assay, bioinformatic splice site prediction Clinical genetics Medium 20497194
2025 Postnatal deletion of Myo7a in cochlear hair cells causes progressive decline in MET current amplitude and hair-bundle stiffness without initially affecting hearing function or resting open probability (Po) of MET channels. This demonstrates MYO7A is essential for structural integrity of hair bundles and MET current magnitude in mature hair cells, but mature hair cells use a MYO7A-independent mechanism to maintain resting MET channel Po. Myo7a deficiency also increased vulnerability to sound-induced damage and downregulated stereociliary genes. Postnatal conditional deletion of Myo7a (Cre-mediated), electrophysiology (MET current recording), hair-bundle stiffness measurement, noise exposure, RNA-sequencing Proceedings of the National Academy of Sciences of the United States of America High 39746042
2024 In vivo AAV9-Myo7a gene rescue in shaker-1 (Myo7a mutant) mice restores IHC function, reestablishes normal adult IHC synaptic profile (eliminating ectopic lateral olivocochlear efferent axosomatic contacts with IHCs), and improves hearing thresholds. This demonstrates that ectopic efferent plasticity in the adult cochlea results directly from MET current dysfunction caused by Myo7a mutation. AAV9-mediated gene delivery, auditory brainstem response (hearing threshold measurement), morphological synaptic analysis (confocal immunofluorescence), mechanoelectrical transducer current recording JCI insight High 39641274
2025 Two MYO7A isoforms (MYO7A-C and MYO7A-N) are expressed in auditory hair cells with opposing tonotopic gradients in OHCs (IHCs primarily express MYO7A-C). Both isoforms localize to the upper tip-link insertion site. Loss of MYO7A-N leads to OHC degeneration and progressive hearing loss. Cryo-EM structures reveal isoform-specific differences at actomyosin interfaces correlating with distinct ATPase activities, suggesting isoform specialization tunes tip-link tension. Isoform-specific knock-in mice, cryo-EM structural determination, ATPase activity assay, immunolocalization, auditory function testing bioRxivpreprint High 40236041
2025 AAV-mediated rescue of Myo7a in newborn shaker-1 mice substantially rescues IHC hair bundle structure and restores mechanoelectrical transducer (MET) currents, including normal resting open probability of MET channels, and mature basolateral membrane current profile. Rescue of IHC (but not OHC) function produces 20-30 dB improvement in hearing thresholds, demonstrating MYO7A is essential for IHC stereocilia mechanotransduction and maturation. Dual-AAV8 and dual-AAV9 gene delivery in Myo7aSh1/Sh1 mice, MET current electrophysiology, auditory brainstem response, fluid-jet hair bundle stimulation The Journal of physiology High 41015536
2004 A Myo7a motor domain missense mutation (I178F) in headbanger mice causes abnormal stereocilia bundle development (more severe in apex than base, with long thin wispy utricular stereocilia) and reduced myosin VIIa protein levels in the inner ear, demonstrating a role for the MYO7A motor domain in stereocilia bundle morphogenesis. ENU mutagenesis screen, scanning electron microscopy of organ of Corti and utricle, protein expression analysis, auditory threshold testing Mammalian genome Medium 15389316
2023 Two major MYO7A isoforms (IF1 and IF2) are both expressed in RPE and neural retina, with IF2 approximately 7-fold more abundant than IF1. 3D modeling shows the 38-amino-acid region unique to IF1 affects the C lobe of the FERM1 domain and the opening of a cleft in this protein-binding domain, suggesting isoform-specific protein-binding differences. qPCR quantification of isoform expression in RPE and neural retina (pig, mouse, human), 3D molecular modeling of isoforms Vision research Low 37586294
2010 Loss of harmonin (USH1C) in Ush1c knockout mice does not affect the cytoplasmic distribution of Myo7a in cochlear hair cells (Myo7a remains normally distributed throughout the cytoplasm), but does cause mislocalization of Pcdh15 and Sans, indicating Myo7a localization is independent of harmonin. Immunofluorescence of cochlear sections and whole-mount preparations from Ush1c(-/-) knockout mice International journal of experimental pathology Medium 21156003
2022 A synonymous variant (c.2904G>A, p.Glu968=) in MYO7A exon 23 causes exon 23 skipping and produces a truncated protein, confirmed by in vitro minigene splicing assay. This establishes a mechanistic basis for DFNB2 through a synonymous (silent) exonic variant affecting splicing. Targeted next-generation sequencing, Sanger sequencing, minigene splicing assay Journal of clinical laboratory analysis Medium 36164746

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1997 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. Nature genetics 330 9171833
1992 Linkage of Usher syndrome type I gene (USH1B) to the long arm of chromosome 11. Genomics 143 1478677
2014 Dual adeno-associated virus vectors result in efficient in vitro and in vivo expression of an oversized gene, MYO7A. Human gene therapy methods 113 24568220
2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human molecular genetics 95 18463160
2013 Retinal gene therapy with a large MYO7A cDNA using adeno-associated virus. Gene therapy 93 23344065
2008 Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual function. Human mutation 89 18181211
2008 Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations. Investigative ophthalmology & visual science 81 19074810
2003 Progressive hearing loss and increased susceptibility to noise-induced hearing loss in mice carrying a Cdh23 but not a Myo7a mutation. Journal of the Association for Research in Otolaryngology : JARO 78 14648237
1996 A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Human molecular genetics 71 8776602
2009 Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Investigative ophthalmology & visual science 68 19324852
2011 Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Investigative ophthalmology & visual science 67 21873662
2001 Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Investigative ophthalmology & visual science 67 11222540
2016 Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells. Stem cells translational medicine 66 27013738
2002 Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hearing research 63 12121736
2011 The many different cellular functions of MYO7A in the retina. Biochemical Society transactions 60 21936790
2011 The Usher 1B protein, MYO7A, is required for normal localization and function of the visual retinoid cycle enzyme, RPE65. Human molecular genetics 53 21493626
2011 Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis. Human mutation 53 21901789
2002 Phenotype of DFNA11: a nonsyndromic hearing loss caused by a myosin VIIA mutation. The Laryngoscope 53 11889386
2002 Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. Human mutation 47 12112664
2016 PDZD7-MYO7A complex identified in enriched stereocilia membranes. eLife 44 27525485
2004 Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). Human genetics 43 15221449
2004 A Myo7a mutation cosegregates with stereocilia defects and low-frequency hearing impairment. Mammalian genome : official journal of the International Mammalian Genome Society 42 15389316
2006 Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Human mutation 40 16470552
2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clinical genetics 34 20132242
2004 Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Human mutation 34 15300860
2014 Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2. PloS one 32 24831256
2010 Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China. Journal of human genetics 32 21150918
2003 Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Human molecular genetics 30 12966030
1997 The genomic structure of the gene defective in Usher syndrome type Ib (MYO7A). Genomics 30 9070921
2007 Analysis of the linkage of MYRIP and MYO7A to melanosomes by RAB27A in retinal pigment epithelial cells. Cell motility and the cytoskeleton 29 17352418
2013 Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology 28 24199935
2019 A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies. Frontiers in neuroscience 27 31824252
2016 The unconventional myosin CRINKLED and its mammalian orthologue MYO7A regulate caspases in their signalling roles. Nature communications 27 26960254
2009 Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. European journal of medical genetics 27 19375528
2021 Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hearing research 26 34391192
2006 Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11). Audiology & neuro-otology 26 16449806
2014 MYO7A and USH2A gene sequence variants in Italian patients with Usher syndrome. Molecular vision 23 25558175
2010 Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1. Journal of human genetics 22 20844544
2002 Searching for evidence of DFNB2. American journal of medical genetics 22 11992483
2022 CRISPR/Cas9 editing of the MYO7A gene in rhesus macaque embryos to generate a primate model of Usher syndrome type 1B. Scientific reports 21 35710827
2013 Identification and functional study of a new missense mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11). PloS one 21 23383098
2015 Gene Therapy for the Retinal Degeneration of Usher Syndrome Caused by Mutations in MYO7A. Cold Spring Harbor perspectives in medicine 20 25605753
2025 MYO7A is required for the functional integrity of the mechanoelectrical transduction complex in hair cells of the adult cochlea. Proceedings of the National Academy of Sciences of the United States of America 19 39746042
2023 Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B. Molecular therapy. Methods & clinical development 19 37693946
2012 Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B. Clinica chimica acta; international journal of clinical chemistry 18 22898263
2006 Cochleovestibular and ocular features in a Dutch DFNA11 family. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 18 16639269
2010 Reinforcement of a minor alternative splicing event in MYO7A due to a missense mutation results in a mild form of retinopathy and deafness. Molecular vision 17 21031134
2016 Novel compound heterozygous mutations in MYO7A gene associated with autosomal recessive sensorineural hearing loss in a Chinese family. International journal of pediatric otorhinolaryngology 16 26968074
2024 The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. Scientific reports 15 38594301
2022 Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines 15 35453549
2011 Functional analysis of splicing mutations in MYO7A and USH2A genes. Clinical genetics 14 20497194
2021 The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A. International journal of molecular sciences 13 34948090
2018 Identification of a MYO7A mutation in a large Chinese DFNA11 family and genotype-phenotype review for DFNA11. Acta oto-laryngologica 12 29400105
2013 Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. Molecular biology reports 12 24194196
2021 Genotype-phenotype correlation in patients with Usher syndrome and pathogenic variants in MYO7A: implications for future clinical trials. Acta ophthalmologica 11 33576163
2021 Spectrum of MYO7A Mutations in an Indigenous South African Population Further Elucidates the Nonsyndromic Autosomal Recessive Phenotype of DFNB2 to Include Both Homozygous and Compound Heterozygous Mutations. Genes 11 33671976
2019 A missense mutation in MYO7A is associated with bilateral deafness and vestibular dysfunction in the Doberman pinscher breed. Canadian journal of veterinary research = Revue canadienne de recherche veterinaire 11 31097876
2016 Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family. International journal of pediatric otorhinolaryngology 11 27729122
2008 In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 11 18667942
2023 Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B. Vision research 10 37586294
2017 Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PloS one 10 28472130
2015 A Founder Mutation in MYO7A Underlies a Significant Proportion of Usher Syndrome in Indigenous South Africans: Implications for the African Diaspora. Investigative ophthalmology & visual science 10 26469752
2010 Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. International journal of experimental pathology 10 21156003
2006 Two Finnish USH1B patients with three novel mutations in myosin VIIA. Molecular vision 10 17093394
2018 The first case of NSHL by direct impression on EYA1 gene and identification of one novel mutation in MYO7A in the Iranian families. Iranian journal of basic medical sciences 9 29511501
2011 Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1. Molecular vision 9 22219650
2019 Identification of four novel mutations in MYO7A gene and their association with nonsyndromic deafness and Usher Syndrome 1B. International journal of pediatric otorhinolaryngology 8 30826590
2019 Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. Eye (London, England) 8 31320737
2018 Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations. International journal of pediatric otorhinolaryngology 8 29605349
2017 The first sporadic case of DFNA11 identified by next-generation sequencing. International journal of pediatric otorhinolaryngology 8 28802369
2017 Identification of a novel MYO7A mutation in Usher syndrome type 1. Oncotarget 8 29416772
2017 Severe retinal degeneration at an early age in Usher syndrome type 1B associated with homozygous splice site mutations in MYO7A gene. Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 8 29942180
2014 Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family. PloS one 8 25080338
2012 An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. International journal of pediatric otorhinolaryngology 8 23237960
2007 Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C. Molecular vision 8 17960123
2024 Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy. Investigative ophthalmology & visual science 7 38884554
2017 A homozygous MYO7A mutation associated to Usher syndrome and unilateral auditory neuropathy spectrum disorder. Molecular medicine reports 7 28731162
2013 Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. Molecular vision 7 23559863
2019 Novel deleterious mutation in MYO7A, TH and EVC2 in two Pakistani brothers with familial deafness. Pakistan journal of medical sciences 6 30881389
2017 Screening of Myo7A Mutations in Iranian Patients with Autosomal Recessive Hearing Loss from West of Iran. Iranian journal of public health 6 28451532
2024 In vivo AAV9-Myo7a gene rescue restores hearing and cholinergic efferent innervation in inner hair cells. JCI insight 5 39641274
2021 A natural knockout of the MYO7A gene leads to pre-weaning mortality in pigs. Animal genetics 5 33955556
2021 Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families. Neural plasticity 5 33976695
1999 Identification of three novel mutations in the MYO7A gene. Human mutation 5 10447383
1998 Map refinement of the Usher syndrome type 1B gene, MYO7A, relative to 11q13.5 microsatellite markers. Clinical genetics 5 9761396
2022 Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss. Journal of clinical laboratory analysis 4 36164746
2021 Novel dilated cardiomyopathy associated to Calreticulin and Myo7A gene mutation in Usher syndrome. ESC heart failure 4 33835720
2019 Lower expression of prestin and MYO7A correlates with menopause-associated hearing loss. Climacteric : the journal of the International Menopause Society 4 30612476
2017 Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree. International journal of pediatric otorhinolaryngology 4 29287847
2015 Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family. International journal of ophthalmology 4 26309859
2004 Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A. Molecular vision 4 15592175
2025 Adeno-associated virus-based rescue of Myo7a expression restores hair-cell function and improves hearing thresholds in a USH1B mouse strain. The Journal of physiology 3 41015536
2023 Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature. World journal of clinical cases 3 37727480
2022 [Identifications of the novel mutants on MYO7A in a family with non-syndromic hereditary deafness]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 3 34979615
2021 Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome. Human heredity 3 34192699
2020 Investigation of MYO15A and MYO7A Mutations in Iranian Patients with Nonsyndromic Hearing Loss. Fetal and pediatric pathology 3 31997689
2020 The p.R206C Mutation in MYO7A Leads to Autosomal Dominant Nonsyndromic Hearing Loss. ORL; journal for oto-rhino-laryngology and its related specialties 3 32428919
1999 Identification of three novel mutations in the MYO7A gene. Human mutation 3 10425080
2025 Tonotopic Specialization of MYO7A Isoforms in Auditory Hair Cells. bioRxiv : the preprint server for biology 2 40236041
2023 Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS. Genes & genomics 2 36630074

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