Affinage

MYO7A

Unconventional myosin-VIIa · UniProt Q13402

Length
2215 aa
Mass
254.4 kDa
Annotated
2026-04-29
100 papers in source corpus 19 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

MYO7A encodes an unconventional myosin motor protein essential for mechanosensory and visual functions, with loss-of-function mutations causing Usher syndrome type 1B (deaf-blindness) or non-syndromic hearing loss (DFNB2/DFNA11) depending on allelic severity (PMID:9171833). In cochlear hair cells, MYO7A maintains stereocilia bundle structural integrity and stiffness, sustains mechanoelectrical transducer (MET) channel function, and organizes the ankle-link region through interaction with PDZD7; postnatal loss progressively reduces hair-bundle stiffness and MET current amplitude and increases noise vulnerability (PMID:27525485, PMID:39746042). In retinal pigment epithelium, MYO7A drives apical melanosome positioning via a RAB27A–MYRIP–MYO7A transport complex, facilitates phagosome trafficking to lysosomes, and mediates light-dependent translocation of the visual cycle enzyme RPE65, with which it physically associates; in photoreceptors it acts cell-autonomously as a selective barrier for membrane proteins at the ciliary transition zone (PMID:17352418, PMID:21493626, PMID:18463160, PMID:21936790). Motor activity is regulated by calmodulin binding to IQ motifs, and disease-causing motor-domain mutations directly impair actin-activated ATPase activity (PMID:15300860, PMID:23383098).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1997 High

    Establishing that the same gene underlies both isolated deafness and syndromic deaf-blindness resolved whether these were genetically distinct disorders and revealed allelic heterogeneity as the basis of phenotypic spectrum.

    Evidence Mutation screening of MYO7A coding exons in DFNB2 and USH1B families; identification of a splicing mutation at exon 15

    PMID:9171833

    Open questions at the time
    • Mechanism by which specific mutation types produce syndromic versus non-syndromic phenotypes was not explained
    • No protein-level functional consequence demonstrated
  2. 2003 Medium

    Demonstrating non-epistatic interaction between Myo7a and Myo15 established that these two unconventional myosins operate in independent pathways for stereocilia development, narrowing the possible mechanistic role of each.

    Evidence Double homozygous Myo7a/Myo15 mutant mice; hearing thresholds and scanning electron microscopy

    PMID:12966030

    Open questions at the time
    • No direct biochemical substrates or binding partners identified for either myosin in this context
    • Observation limited to developmental phenotype
  3. 2004 Medium

    Showing that a disease-causing IQ5 mutation abolishes constitutive calmodulin binding provided the first evidence that CaM-mediated regulation of the MYO7A lever arm is required for hearing function.

    Evidence Expression of IQ5 peptides in smooth muscle cells; calmodulin-dependent vasoconstriction functional assay

    PMID:15300860

    Open questions at the time
    • Assay performed in smooth muscle cells, not in hair cells
    • Effect on motor processivity or force generation not directly measured
  4. 2007 High

    Identification of the RAB27A–MYRIP–MYO7A tripartite complex on melanosomes defined the molecular mechanism by which MYO7A captures and transports melanosomes in RPE cells.

    Evidence Live-cell imaging of primary RPE cultures; mutant mouse retinal analysis; cell fractionation; in vitro binding assays

    PMID:17352418

    Open questions at the time
    • Whether MYO7A acts as a processive transporter or a tether on melanosomes was not resolved
    • Contribution of other motors to the same cargo not fully delineated
  5. 2008 High

    Mosaic retinal analysis proved that the MYO7A photoreceptor phenotype is cell-autonomous, ruling out the hypothesis that photoreceptor defects are secondary to RPE dysfunction and establishing a direct photoreceptor role.

    Evidence Mosaic retinal analysis in Myo7a-deficient shaker1 mice

    PMID:18463160

    Open questions at the time
    • Molecular target or cargo of MYO7A within photoreceptors not identified
    • Whether the RPE and photoreceptor functions synergize in disease progression remained unclear
  6. 2008 Medium

    Demonstrating that a DFNB2 tail-domain mutant retains stereocilia targeting while a USH1B mutant does not provided a molecular explanation for allele-severity correlations in human disease.

    Evidence GFP-tagged MYO7A constructs with engineered mutations transfected into mouse hair cells; immunolocalization

    PMID:18181211

    Open questions at the time
    • Only two alleles tested
    • Biochemical basis of targeting failure not identified
  7. 2011 High

    Discovery that MYO7A physically associates with RPE65 and is required for its light-dependent translocation revealed an unexpected role for an actin motor in the visual retinoid cycle.

    Evidence Co-immunoprecipitation from RPE lysates; retinoid metabolite assays; immunolocalization in Myo7a mutant mice

    PMID:21493626

    Open questions at the time
    • Whether the MYO7A–RPE65 interaction is direct or bridged by an adaptor was not resolved
    • Structural basis of the interaction unknown
  8. 2011 High

    A unified functional model placed MYO7A in three distinct RPE trafficking pathways (melanosome positioning, phagosome clearance, RPE65 translocation) plus a ciliary-gate role in photoreceptors, consolidating disparate observations.

    Evidence Synthesis of Myo7a-null mouse retinal phenotypes; immunolocalization and functional assays

    PMID:21936790

    Open questions at the time
    • Mechanism of selective membrane-protein gating at the ciliary transition zone not defined at molecular level
    • Whether the gate function is motor-dependent or scaffold-dependent was not tested
  9. 2013 Medium

    Direct measurement of reduced actin-activated ATPase activity for the R668H motor-domain mutant provided the first biochemical proof that disease mutations impair the enzymatic motor cycle of MYO7A.

    Evidence Purified wild-type vs. R668H MYO7A; NADH-coupled ATPase assay

    PMID:23383098

    Open questions at the time
    • Motility or force-generation measurements not performed
    • Single mutant tested; generalizability to other motor-domain mutations not shown
  10. 2016 High

    Identification of MYO7A–PDZD7 complex by mass spectrometry from native stereocilia membranes, confirmed by co-IP and co-localization, established a new scaffold partner at the ankle-link region linking MYO7A to broader Usher-network organization.

    Evidence Stereocilia membrane proteomics; co-immunoprecipitation in cells; immunolocalization in WT and Myo7a mutant mouse hair cells

    PMID:27525485

    Open questions at the time
    • Functional consequence of disrupting the MYO7A–PDZD7 interaction specifically was not tested
    • Whether PDZD7 is a cargo or a scaffold for MYO7A was not distinguished
  11. 2016 Medium

    Evidence that MYO7A binds and modulates CASPASE-8 in a non-apoptotic RIPK1 signaling pathway expanded MYO7A function beyond sensory-cell trafficking to signaling scaffold roles.

    Evidence Co-IP; genetic epistasis in Drosophila crinkled mutants; caspase signaling assays with mammalian confirmation

    PMID:26960254

    Open questions at the time
    • Mammalian MYO7A–CASPASE-8 interaction not validated by reciprocal IP in native tissue
    • Physiological relevance in sensory cells not demonstrated
    • Mechanism of substrate recruitment to caspases incompletely defined
  12. 2023 Medium

    AAV-mediated Myo7a gene rescue in shaker-1 mice restored MET function and corrected aberrant efferent synaptic organization, revealing that MYO7A in inner hair cells is required to maintain the normal adult synaptic configuration.

    Evidence In vivo AAV9-Myo7a delivery; MET current recordings; efferent synapse immunofluorescence; ABR measurements

    PMID:39641274

    Open questions at the time
    • Whether the synaptic phenotype is a direct consequence of MET dysfunction or an independent MYO7A function was not resolved
    • Long-term durability of rescue not assessed
  13. 2025 High

    Postnatal conditional deletion demonstrated that MYO7A is continuously required for hair-bundle stiffness and MET current maintenance in mature hair cells, separable from setting the resting open probability of MET channels.

    Evidence Postnatal Cre-mediated Myo7a deletion; MET electrophysiology; hair-bundle stiffness measurements; ABR; SEM; RNA-seq

    PMID:39746042

    Open questions at the time
    • Direct molecular target through which MYO7A maintains bundle stiffness not identified
    • RNA-seq changes are correlative; causal downstream pathways not established

Open questions

Synthesis pass · forward-looking unresolved questions
  • Major open questions include the structural basis of MYO7A processivity and force generation along stereocilia actin, the molecular identity of cargoes gated at the photoreceptor ciliary transition zone, and whether the MYO7A–CASPASE-8 signaling axis operates in sensory cells in vivo.
  • No high-resolution structure of full-length MYO7A
  • No reconstituted in vitro motility with native cargoes
  • Ciliary transition-zone gating mechanism molecularly undefined

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:0140657 ATP-dependent activity 2
Localization
GO:0005856 cytoskeleton 2 GO:0005929 cilium 2 GO:0005886 plasma membrane 1
Pathway
R-HSA-9609507 Protein localization 3 R-HSA-9709957 Sensory Perception 3 R-HSA-5653656 Vesicle-mediated transport 2
Partners
CALM1CASP8MYRIPPDZD7RAB27ARPE65
Complex memberships
MYO7A-PDZD7 ankle-link complexRAB27A-MYRIP-MYO7A melanosome transport complex

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1997 Different mutations in MYO7A cause either isolated non-syndromic deafness (DFNB2) or syndromic deafness with retinitis pigmentosa (Usher syndrome type 1B), establishing that the same gene underlies both phenotypes through allelic heterogeneity. A G-to-A transition at the last nucleotide of exon 15 was shown to decrease splicing efficiency. Sequence analysis of coding exons; linkage analysis; splicing mutation identification Nature genetics High 9171833
2008 In Myo7a-null shaker1 mice with mosaic retinas, the mutant photoreceptor phenotype was shown to be cell-autonomous and not secondary to mutant RPE cells, placing MYO7A function intrinsically within photoreceptors. Mosaic retinal analysis in Myo7a-deficient shaker1 mice; optical imaging of retinal structure Human molecular genetics High 18463160
2007 MYO7A links to melanosomes in RPE cells via the RAB27A-MYRIP complex (analogous to melanophilin-RAB27A-MYO5A in melanocytes), and the RAB27A-MYRIP-MYO7A complex functions in melanosome motility in RPE cells. RAB27A provides an essential link to the melanosome. Live-cell imaging of primary RPE cultures; mutant mouse retinal analysis; RPE cell fractionation; in vitro binding assays; immunolocalization Cell motility and the cytoskeleton High 17352418
2011 MYO7A is required for the light-dependent translocation of RPE65 to the central region of RPE cells; in Myo7a-mutant mice RPE65 is mislocalized, degraded more quickly, and its activity is reduced (increased all-trans-retinyl ester levels post-photobleach). MYO7A and RPE65 were co-immunoprecipitated from RPE cell lysate, suggesting direct or indirect physical interaction. Co-immunoprecipitation from RPE cell lysate; immunolocalization; biochemical assay of retinoid cycle metabolites; light-damage resistance phenotype in Myo7a-mutant mice Human molecular genetics High 21493626
2011 MYO7A in the RPE participates in: (1) apical localization of melanosomes (competing with microtubule motors); (2) removal of phagosomes from apical RPE for delivery to lysosomes in basal RPE (possibly co-operative with microtubule motors); and (3) light-dependent translocation of RPE65. In photoreceptors, MYO7A functions as a selective barrier for membrane proteins (e.g., opsin) at the distal end of the transition zone of the cilium. Analysis of Myo7a-null mouse retinas; immunolocalization; functional assays in RPE and photoreceptor cells Biochemical Society transactions High 21936790
2009 Near-infrared autofluorescence (NIR-AF) of the posterior eye originates predominantly from melanosomes in RPE and choroid. In Myo7a-null mouse RPE, melanosomes (NIR-AF signal) are absent from apical processes, directly correlating with previously described melanosome localization defects due to loss of MYO7A. Spectral deconvolution confocal microscopy of ex vivo mouse retinas; scanning laser ophthalmoscopy in USH1B patients; purified RPE melanosome spectroscopy Investigative ophthalmology & visual science High 19324852
2016 MYO7A (the mammalian ortholog of Drosophila CRINKLED) binds to and regulates CASPASE-8, acting as a substrate adaptor that recruits kinase substrates to caspases for cleavage, thereby modulating RIPK1>CASPASE-8 non-apoptotic signaling. Co-immunoprecipitation; genetic epistasis in Drosophila; functional caspase signaling assays; biochemical cleavage assays Nature communications Medium 26960254
2016 MYO7A forms a protein complex with PDZD7 (a paralog of USH1C/harmonin and DFNB31/whirlin) in stereocilia membrane fractions, as identified by mass spectrometry from enriched stereocilia membranes. MYO7A and PDZD7 interact in tissue-culture cells and co-localize to the ankle-link region of stereocilia in wild-type but not in Myo7a mutant mice. Stereocilia membrane fraction isolation; mass spectrometry proteomics; co-immunoprecipitation in tissue-culture cells; immunolocalization in wild-type and Myo7a mutant mouse hair cells eLife High 27525485
2004 A missense mutation (p.R853C) in the fifth IQ motif (IQ5) of MYO7A impairs calmodulin (CaM) binding, causing autosomal dominant hearing loss (DFNA11). Functional assay in vascular smooth muscle cells showed that wild-type IQ5 constitutively binds CaM at all physiologically relevant Ca2+ concentrations, while the mutant IQ5 does not. Expression of MYO7A IQ5-containing peptides in smooth muscle cells of microarteries; calmodulin-dependent vasoconstriction assay; functional CaM binding assessment Human mutation Medium 15300860
2004 A missense mutation (p.N458I) in the motor domain of MYO7A is predicted by molecular modeling (based on Dictyostelium myosin II heavy chain structure) to disrupt ATP/ADP binding and impair the myosin power-stroke, providing a structural mechanism for DFNA11 dominant hearing loss. Molecular modeling of MYO7A motor domain; sequence analysis; linkage analysis Human genetics Low 15221449
2013 The p.R668H mutation in the motor domain of MYO7A significantly reduces actin-activated ATPase activity, demonstrating that the motor domain mutation impairs the enzymatic function of myosin VIIA, causing DFNA11 hearing loss. Actin-activated ATPase activity assay (NADH oxidation rate) comparing wild-type and p.R668H mutant myosin VIIA protein PloS one Medium 23383098
2008 A DFNB2 allele (p.E1716del) in the tail domain of MYO7A retains the ability to localize correctly to hair cell stereocilia in transfected mouse hair cells, whereas a USH1B allele (equivalent GFP-myosin VIIa) does not localize properly to stereocilia, explaining why different mutations cause phenotypes of differing severity. GFP-tagged cDNA expression constructs with engineered mutations transfected into mouse hair cells; immunolocalization of GFP-myosin VIIa in stereocilia Human mutation Medium 18181211
2010 A missense mutation in the exon 16 last nucleotide (c.1935G>A) in MYO7A enhances exclusion of exon 16 through partial impairment of the adjacent donor splice site without completely abolishing exon inclusion, causing a milder retinopathy than full USH1B. Minigene splicing assay confirmed the effect. Lymphoid RNA analysis; splicing minigene transfection assay; structural prediction of molecular model Molecular vision Medium 21031134
2025 MYO7A is essential for structural integrity and long-term maintenance of hair bundles in mature cochlear hair cells, distinct from its role in setting the resting open probability of MET channels. Postnatal deletion of Myo7a progressively reduces hair-bundle stiffness and MET current amplitude without initially affecting resting open probability, and increases vulnerability to noise-induced damage. RNA-sequencing identified downregulation of stereociliary genes indicating indirect compensatory mechanisms. Postnatal conditional Myo7a deletion (Cre-mediated); MET current electrophysiology; hair-bundle stiffness measurements; auditory threshold measurements (ABR); scanning electron microscopy; RNA-sequencing Proceedings of the National Academy of Sciences of the United States of America High 39746042
2011 Mutations in multiple splicing sites in MYO7A (c.2283-1G>T and c.5856G>A) abolish consensus splice sites, producing exon skipping. This was demonstrated by hybrid minigene assay. Hybrid minigene splicing assay; bioinformatic splice prediction Clinical genetics Medium 20497194
2010 Null mutation of Ush1c (harmonin) does not alter the cytoplasmic distribution of Myo7a in cochlear hair cells, demonstrating that harmonin is not required for Myo7a localization to the cytoplasm, though harmonin loss mislocalized Pcdh15 and Sans. Immunolocalization in Ush1c knockout mouse cochlea; morphological analysis of cochlear sections International journal of experimental pathology Medium 21156003
2003 Double homozygous Myo7a/Myo15 mutant mice show a superimposition of single mutant stereocilia phenotypes without epistatic interaction, and Myo7a heterozygosity does not modify the Myo15 hearing phenotype, indicating that Myo7a and Myo15 function in distinct pathways for stereocilia development. Genetic crosses to generate double mutant mice; hearing threshold measurement; scanning electron microscopy of stereocilia Human molecular genetics Medium 12966030
2016 CRISPR/Cas9 correction of a MYO7A mutation (c.4118C>T) in patient-derived iPSCs restored normal stereocilia-like protrusion organization and electrophysiological function in derived hair cell-like cells, confirming MYO7A's role in stereocilia bundle assembly. CRISPR/Cas9 gene correction; iPSC differentiation to hair cell-like cells; morphological and electrophysiological analysis Stem cells translational medicine Medium 27013738
2023 In vivo AAV9-Myo7a gene delivery to shaker-1 (Myo7a mutant) mice rescued IHC mechanoelectrical transducer function, reestablished the normal adult synaptic profile of IHCs (preventing aberrant axosomatic cholinergic efferent contacts), and improved hearing, demonstrating that MYO7A function in IHCs is required for maintaining normal efferent synaptic organization. In vivo AAV-Myo7a gene delivery; functional MET current recording; immunofluorescence of efferent synapses; auditory brainstem response measurements JCI insight Medium 39641274

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 329 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
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
2001 Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B. Investigative ophthalmology & visual science 66 11222540
2002 Stereocilia defects in waltzer (Cdh23), shaker1 (Myo7a) and double waltzer/shaker1 mutant mice. Hearing research 62 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 52 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
2004 Impaired calmodulin binding of myosin-7A causes autosomal dominant hearing loss (DFNA11). Human mutation 34 15300860
2010 Variable hearing impairment in a DFNB2 family with a novel MYO7A missense mutation. Clinical genetics 33 20132242
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
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
2003 Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Human molecular genetics 29 12966030
2013 Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation. Ophthalmology 28 24199935
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
2019 A Novel Mouse Model of MYO7A USH1B Reveals Auditory and Visual System Haploinsufficiencies. Frontiers in neuroscience 26 31824252
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
2021 Rare coding variants involving MYO7A and other genes encoding stereocilia link proteins in familial meniere disease. Hearing research 25 34391192
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
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
2023 Dual-AAV vector-mediated expression of MYO7A improves vestibular function in a mouse model of Usher syndrome 1B. Molecular therapy. Methods & clinical development 17 37693946
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
2022 Clinical Heterogeneity Associated with MYO7A Variants Relies on Affected Domains. Biomedicines 14 35453549
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 13 39746042
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
2011 Functional analysis of splicing mutations in MYO7A and USH2A genes. Clinical genetics 13 20497194
2024 The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B. Scientific reports 12 38594301
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
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
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 10 18667942
2006 Two Finnish USH1B patients with three novel mutations in myosin VIIA. Molecular vision 10 17093394
2023 Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B. Vision research 9 37586294
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
2017 Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss. PloS one 9 28472130
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
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
2019 Retinal findings in pediatric patients with Usher syndrome Type 1 due to mutations in MYO7A gene. Eye (London, England) 7 31320737
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
2012 An Usher syndrome type 1 patient diagnosed before the appearance of visual symptoms by MYO7A mutation analysis. International journal of pediatric otorhinolaryngology 7 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 7 17960123
2024 Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy. Investigative ophthalmology & visual science 6 38884554
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
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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
2023 Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS. Genes & genomics 2 36630074
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 2 37727480
2017 A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family. International journal of pediatric otorhinolaryngology 2 28688563
2007 [Gene mapping for autosomal dominant nonsyndromic hearing loss DFNA11]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2 17702415