Affinage

PCDH15

Protocadherin-15 · UniProt Q96QU1

Length
1955 aa
Mass
216.1 kDa
Annotated
2026-06-10
59 papers in source corpus 18 papers cited in narrative 16 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

PCDH15 is a transmembrane protocadherin essential for the morphogenesis and mechanosensory function of inner ear hair cell stereocilia, where its loss causes abnormal stereocilia and progressive cochlear neuroepithelial degeneration (PMID:11138007, PMID:11487575, PMID:11398101). It localizes to stereocilia and to retinal photoreceptors (PMID:14570705, PMID:11487575), and forms the mechanotransduction apparatus through cis-homodimerization: two PCDH15 molecules assemble into a parallel, right-handed double-helical extracellular filament stabilized by an EC2–EC3 interface and a unique membrane-proximal contact, and mutations that disrupt these interfaces impair hair cell mechanotransduction (PMID:30057206, PMID:42263124). Within the mechanotransduction complex, PCDH15 retains LHFPL5 at stereocilia tips (PMID:29069081) and engages the USH1 protein network by binding harmonin (USH1C) through harmonin's PDZ2 domain, a scaffolding interaction that reciprocally controls PCDH15 subcellular positioning in hair cells (PMID:15928608, PMID:21156003). Alternative splicing of its cytoplasmic domain produces functionally distinct isoforms: the CD2 isoform is specifically required for kinociliary link formation, hair bundle polarization, and an early kinocilium-migration step acting through genetic interaction with the PCP effector GPSM2/Gαi, while CD1 and CD3 act redundantly at tip links (PMID:21427143, PMID:40802839). The full-length extracellular domain is dispensable for tip-link function, as engineered mini-PCDH15 proteins retaining CDH23 binding restore tip links and rescue hearing in deficient mice (PMID:37100771). In the retina, PCDH15 is required for light-dependent phototransduction protein translocation and for normal retinoid-cycle protein levels, a defect partially rescued by 9-cis retinal (PMID:34751129).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2001 High

    Established that PCDH15 is genetically required for hair cell stereocilia morphogenesis and mechanoreceptor maintenance, defining the gene's foundational sensory role.

    Evidence Positional cloning and scanning EM of cochlear hair cells in Ames waltzer mutant mice

    PMID:11138007 PMID:11398101 PMID:11487575

    Open questions at the time
    • Did not define the molecular partners or biophysical mechanism
    • Mechanism linking PCDH15 loss to progressive degeneration unresolved
  2. 2003 High

    Localized PCDH15 protein to stereocilia and photoreceptors, anchoring its dual sensory functions to specific cellular compartments.

    Evidence Immunocytochemistry in mouse inner ear and retina

    PMID:11487575 PMID:14570705

    Open questions at the time
    • Subcellular resolution within stereocilia not defined
    • Retinal molecular function not addressed
  3. 2005 High

    Connected PCDH15 to the USH1 scaffold by demonstrating a direct harmonin (USH1C) interaction, framing PCDH15 as part of a multiprotein Usher complex.

    Evidence GST pull-down, yeast two-hybrid, and immunoelectron microscopy of rodent retina mapping binding to harmonin PDZ2

    PMID:15928608

    Open questions at the time
    • Functional consequence of the interaction in vivo not established
    • Stoichiometry within larger complex unknown
  4. 2005 High

    Showed via the Drosophila ortholog Cad99C that PCDH15-type protocadherins regulate actin-based microvillus dimensions through their extracellular domain amount, generalizing the protein's role in apical actin structures.

    Evidence LOF/GOF genetics and truncation constructs with confocal microscopy in Drosophila follicle cells

    PMID:16260500

    Open questions at the time
    • Relevance to mammalian stereocilia length control not directly tested
    • Cytoplasmic domain role left unexplained
  5. 2010 Medium

    Demonstrated that harmonin reciprocally controls PCDH15 positioning, establishing scaffold-dependent localization within the complex.

    Evidence Immunofluorescence of cochlear sections from Ush1c knockout mice

    PMID:21156003

    Open questions at the time
    • Single lab, single method
    • Whether mislocalization is direct or secondary to bundle disruption unclear
  6. 2011 High

    Resolved isoform-specific functions, showing the CD2 cytoplasmic variant is uniquely required for kinociliary links and bundle polarization downstream of PCP, while CD1/CD3 act redundantly at tip links.

    Evidence Three isoform-specific knockout mouse lines with ABR, immunofluorescence, and bundle morphology

    PMID:21427143

    Open questions at the time
    • Molecular effectors of CD2 polarity function not identified
    • Mechanism of isoform-specific targeting unknown
  7. 2012 Medium

    Proposed differential vesicular trafficking routes for PCDH15 isoforms, linking CD2 to rab5 early endosomes and others to SNAP25-associated microdomains.

    Evidence Confocal colocalization, sucrose gradients, trafficking inhibitors, and co-IP in organ of Corti

    PMID:23035094

    Open questions at the time
    • PCDH15–SNAP25 direct interaction shown only indirectly, not by co-IP
    • Functional importance of distinct routes untested
  8. 2017 High

    Identified PCDH15 as required to retain LHFPL5 at stereocilia tips, placing it upstream of mechanotransduction complex assembly.

    Evidence Immunogold TEM and immunofluorescence across postnatal development in PCDH15-deficient mice

    PMID:29069081

    Open questions at the time
    • Direct PCDH15–LHFPL5 binding not biochemically mapped here
    • Whether retention is via physical anchoring or complex stabilization unclear
  9. 2017 Medium

    Linked the zebrafish ortholog to an integrin alpha8 complex regulating ciliary trafficking via RhoA, expanding PCDH15 function beyond tip links into cilia biogenesis.

    Evidence Zebrafish LOF, complex co-IP, and rescue with constitutively active RhoA

    PMID:28883094

    Open questions at the time
    • Ortholog study, single lab
    • Conservation of the Itga8–PCDH15–RhoA axis in mammals not demonstrated
  10. 2018 High

    Defined the structural basis of tip-link mechanosensing, showing PCDH15 cis-homodimerizes via EC2–EC3 and a membrane-proximal interface to form a parallel double-helical filament essential for mechanotransduction.

    Evidence Crystallography/cryo-EM, biophysics, and site-directed mutagenesis with hair cell MET assays

    PMID:30057206

    Open questions at the time
    • Dynamic behavior of the filament under force not directly measured
    • Interplay with CDH23 in the assembled tip link not fully resolved
  11. 2021 Medium

    Defined a retinal mechanism for PCDH15-associated vision loss, showing defective phototransduction protein translocation and retinoid-cycle protein reduction rescuable by 9-cis retinal.

    Evidence Longitudinal phenotyping, ERG, immunohistochemistry, and retinoid supplementation in Pcdh15 knockin mice

    PMID:34751129

    Open questions at the time
    • Direct molecular link between PCDH15 and retinoid cycle proteins unknown
    • Single lab
  12. 2023 High

    Demonstrated that the full-length extracellular domain is dispensable, as engineered mini-PCDH15 retaining CDH23 binding forms tip links and rescues hearing, enabling AAV gene-therapy strategies.

    Evidence Structure-based protein engineering, in vitro binding, AAV delivery, ABR, and immunohistochemistry in Pcdh15-deficient mice

    PMID:37100771

    Open questions at the time
    • Long-term durability and retinal rescue not addressed
    • Mechanical performance of shortened filament under physiological force untested
  13. 2025 High

    Uncovered an early, kinocilial-link-independent role for PCDH15-CD2 in intrinsic hair cell polarity via genetic interaction with GPSM2, separating polarity establishment from link formation.

    Evidence Pcdh15-CD2-specific mouse mutant with rescue, Gpsm2 epistasis, immunofluorescence, and vestibular testing

    PMID:40802839

    Open questions at the time
    • Molecular mechanism by which CD2 directs kinocilium migration unknown
    • Direct PCDH15-CD2–GPSM2 physical link not established
  14. 2026 High

    Refined the dimer architecture by cryo-EM, confirming a right-handed double helix stabilized by strand crossovers and parallel contacts whose disruption impairs mechanotransduction.

    Evidence Cryo-EM of the extracellular domain with dimerization-interface mutagenesis and hair cell MET assays

    PMID:42263124

    Open questions at the time
    • Force-induced conformational transitions not captured
    • Full tip-link complex with CDH23 not resolved
  15. 2026 Medium

    Established conserved dual ear/eye requirement using zebrafish paralog double mutants, showing both paralogs support hair cell links and photoreceptor calyceal/segment integrity.

    Evidence Zebrafish single/double and isoform-specific mutants with immunofluorescence, EM, and retinal histology

    PMID:42151386

    Open questions at the time
    • Ortholog study, single lab
    • Molecular basis of calyceal process organization not defined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PCDH15 mechanistically couples to the retinoid cycle and phototransduction protein translocation in photoreceptors, and the direct molecular effectors of its CD2-dependent polarity function, remain unresolved.
  • No direct biochemical link between PCDH15 and RPE65/CRALBP established
  • Physical effectors downstream of PCDH15-CD2/GPSM2 in kinocilium migration unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 3 GO:0005198 structural molecule activity 2 GO:0060089 molecular transducer activity 2
Localization
GO:0005856 cytoskeleton 3 GO:0005886 plasma membrane 3 GO:0005929 cilium 3
Pathway
R-HSA-112316 Neuronal System 2 R-HSA-1266738 Developmental Biology 2 R-HSA-9709957 Sensory Perception 2
Partners
CDH23GPSM2ITGA8LHFPL5USH1C
Complex memberships
USH1 protein networkmechanotransduction complextip link

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 Pcdh15 (protocadherin 15) is required for normal morphogenesis and maintenance of inner ear hair cell stereocilia; loss-of-function mutation in Ames waltzer mice causes abnormal stereocilia by postnatal day 10 and progressive degeneration of cochlear neuroepithelia, establishing PCDH15 as essential for mechanoreceptor function. Mouse genetics (Ames waltzer mutant), scanning electron microscopy of cochlear hair cells, positional cloning Nature genetics High 11138007 11398101 11487575
2003 PCDH15 protein localizes to inner ear hair cell stereocilia and retinal photoreceptors, as demonstrated by immunocytochemistry, consistent with its role in stereocilia bundle morphogenesis/cohesion and photoreceptor maintenance. Immunocytochemistry/immunohistochemistry in mouse inner ear and retina Human molecular genetics High 11487575 14570705
2005 PCDH15 (USH1F) interacts with harmonin (USH1C) via harmonin PDZ2 domain; PCDH15 and harmonin co-localize at photoreceptor synaptic terminals and at the base of the outer segment, suggesting a role for the PCDH15–harmonin complex in disk morphogenesis and synaptic organization. GST pull-down, yeast two-hybrid assay, immunofluorescence, immunoelectron microscopy of rodent retinas Molecular vision High 15928608
2005 The Drosophila PCDH15 ortholog Cad99C specifically localizes to apical microvilli of follicle cells; loss of Cad99C shortens and disorganizes microvilli, while overexpression dramatically increases microvillus length. The extracellular domain amount, not the cytoplasmic domain, determines microvillus length, identifying this protocadherin as a transmembrane regulator of actin-based microvillus dimensions. Loss-of-function (mutant Drosophila), gain-of-function (overexpression), truncation constructs, confocal microscopy The Journal of cell biology High 16260500
2011 Alternative splicing of the PCDH15 cytoplasmic domain generates functionally distinct isoforms: PCDH15-CD2 is specifically required for kinociliary link formation and hair bundle polarization (acting downstream of planar cell polarity components), whereas PCDH15-CD1 and PCDH15-CD3 are redundant at tip links. Loss of PCDH15-CD2 causes deafness with abnormally polarized hair bundles despite normal PCP protein distribution. Generation of three isoform-specific mouse knockout lines, auditory brainstem response (ABR) testing, immunofluorescence, morphological analysis of hair bundles Development (Cambridge, England) High 21427143
2012 Specific PCDH15 variants (CD2 isoform) are trafficked apically via rab5-positive early endosomal vesicles, while other PCDH15 variants are trafficked basally in membrane microdomains associated with SNAP25; SNAP25 physically interacts with VLGR1 (but PCDH15 co-immunoprecipitation with SNAP25 is shown indirectly), suggesting a regulated vesicular trafficking mechanism for Usher protein complexes in hair cells. Confocal colocalization with vesicular markers, sucrose density gradients, vesicle trafficking inhibitors, co-immunoprecipitation in organ of Corti The Journal of neuroscience Medium 23035094
2017 PCDH15 is required for proper localization of LHFPL5 to the tips of shorter stereocilia; in PCDH15-deficient mice at P3, LHFPL5 is not at stereocilia tips but instead is on unranked stereocilia and lower lateral links, demonstrating that PCDH15 is needed to retain LHFPL5 at the mechanotransduction complex. Immunofluorescence and immunogold transmission electron microscopy in wild-type and PCDH15-deficient mice across postnatal development (P0–P21) PloS one High 29069081
2017 PCDH15a (zebrafish ortholog) forms a complex with integrin α8 (Itga8) in neuromast hair cells; depletion of this complex dysregulates cilia biogenesis and endocytosis by blocking Rab8a entry into cilia and disrupting ciliary cargo recruitment by centriolar satellites. These defects are rescued by constitutively active RhoA, placing the Itga8–Pcdh15a complex upstream of RhoA and actin cytoskeleton regulation in sensory cilia development. Zebrafish loss-of-function (morpholino knockdown/mutation), rescue with constitutively active RhoA, co-immunoprecipitation/complex characterization, live imaging Journal of cell science Medium 28883094
2018 PCDH15 forms cis-homodimers via two dimerization interfaces: one in the EC2–EC3 extracellular cadherin domain region and one in a unique membrane-proximal domain. EM studies reveal a parallel double-helical assembly with cis cross-bridges at both locations. Mutations that perturb these dimerization contacts impair mechanotransduction in hair cells, demonstrating that cis-dimerization is critical for tip-link mechanosensory function. X-ray crystallography/cryo-EM (electron microscopy) structure determination, biophysical characterization, site-directed mutagenesis, hair cell mechanotransduction assays Neuron High 30057206
2010 Harmonin (USH1C) is required for proper subcellular localization of PCDH15 in cochlear hair cells; in Ush1c knockout mice, PCDH15 is mislocalized from the base of stereocilia and cuticular plate to the apical region of outer hair cells, demonstrating that USH1C-dependent scaffolding is required for PCDH15 positioning. Immunofluorescence and immunohistochemistry of cochlear sections from Ush1c−/− knockout mice International journal of experimental pathology Medium 21156003
2006 PCDH15 is expressed as a novel secreted isoform (PCDH15C) in NK and T cell lines as well as biopsies of nasal NK/T-cell lymphomas; a monoclonal antibody screen identified the ~85 kDa surface glycoprotein recognized as an associated protein for this secreted isoform, revealing that alternative processing generates a secreted form in hematopoietic tumor cells. Monoclonal antibody characterization, protein identification, cell line expression studies, immunohistochemistry on biopsy samples Oncogene Low 16369489
2023 Structure-based deletion of 3–5 of the 11 extracellular cadherin repeats of PCDH15 generates mini-PCDH15 proteins that retain binding to the partner protein CDH23, can be packaged in AAV, properly form tip links in vivo, prevent hair bundle degeneration, and rescue hearing in Pcdh15-deficient mice, demonstrating that the full-length extracellular domain is not required for tip-link function. Rational structure-based protein engineering, in vitro binding assays, AAV injection into mouse inner ear, auditory brainstem response, immunohistochemistry Nature communications High 37100771
2021 In Pcdh15 mutant mice, light-dependent translocation of phototransduction proteins (arrestin and transducin) is aberrant, and retinal pigment epithelium-specific retinoid cycle proteins RPE65 and CRALBP are reduced, indicating a dual role for PCDH15 in photoreceptors and RPE. Exogenous 9-cis retinal improved ERG amplitudes in Pcdh15 mice, identifying a retinoid-cycle defect as a mechanism underlying visual dysfunction. Longitudinal phenotyping in Pcdh15 knockin mice, ERG, immunohistochemistry for phototransduction proteins, retinoid supplementation rescue experiment eLife Medium 34751129
2025 PCDH15-CD2 isoform has an early role in intrinsic hair cell polarity independent of kinocilial links: in a Pcdh15-CD2-specific mutant, initial kinocilium deflection occurs but its peripheral migration to register with Gαi is perturbed. PCDH15-CD2 genetically interacts with Gpsm2 (a PCP effector), earliest expression is at the base of kinocilia before kinocilial link formation, and polarity defects are rescued by re-introducing functional PCDH15-CD2. Pcdh15-CD2 isoform-specific mouse mutant, rescue experiments, genetic epistasis with Gpsm2, immunofluorescence, vestibular function testing PLoS genetics High 40802839
2026 Cryo-EM structure of the extracellular PCDH15 domain shows two PCDH15 molecules form a parallel cis dimer stabilized by two strand crossovers and two parallel contacts, yielding a right-handed double helix. Mutations in PCDH15 dimerization domains impair mechanotransduction (MET), establishing the molecular basis for tip-link helical architecture and mechanosensing. Cryo-EM structure determination, site-directed mutagenesis of dimerization interfaces, hair cell MET channel functional assay Proceedings of the National Academy of Sciences of the United States of America High 42263124
2026 In a zebrafish double mutant lacking both pcdh15a and pcdh15b paralogs, kinocilial and stereocilial links are lost in the ear and calyceal processes are disorganized with inner/outer segment detachment and photoreceptor cell death in the retina, demonstrating that both PCDH15 paralogs function in mechanosensitive hair cells and retinal photoreceptors. Isoform-specific knockouts allow isolation of ear vs. eye phenotypes. Zebrafish single and double mutant generation, isoform-specific knockouts, immunofluorescence, electron microscopy, retinal histology Communications biology Medium 42151386

Source papers

Stage 0 corpus · 59 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. American journal of human genetics 329 11398101
2001 The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nature genetics 263 11138007
2003 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. Human molecular genetics 230 14570705
2001 Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Human molecular genetics 223 11487575
2011 Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development (Cambridge, England) 104 21427143
2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Human molecular genetics 95 18463160
2008 Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. Human genetics 76 18719945
2005 Photoreceptor expression of the Usher syndrome type 1 protein protocadherin 15 (USH1F) and its interaction with the scaffold protein harmonin (USH1C). Molecular vision 76 15928608
2005 Drosophila melanogaster Cad99C, the orthologue of human Usher cadherin PCDH15, regulates the length of microvilli. The Journal of cell biology 63 16260500
2007 In vitro and ex vivo suppression by aminoglycosides of PCDH15 nonsense mutations underlying type 1 Usher syndrome. Human genetics 54 17653769
2019 In Vitro Modeling of the Bipolar Disorder and Schizophrenia Using Patient-Derived Induced Pluripotent Stem Cells with Copy Number Variations of PCDH15 and RELN. eNeuro 51 31540999
2018 Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture. Neuron 44 30057206
2023 Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nature communications 40 37100771
2007 Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome. Molecular vision 36 17277737
2008 Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15. European journal of human genetics : EJHG 33 19107147
2006 Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts. Investigative ophthalmology & visual science 31 16799054
2001 Expression of Pcdh15 in the inner ear, nervous system and various epithelia of the developing embryo. Mechanisms of development 31 11429292
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
2022 Template-independent genome editing in the Pcdh15av-3j mouse, a model of human DFNB23 nonsyndromic deafness. Cell reports 26 35830793
2010 Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome. Investigative ophthalmology & visual science 26 20538994
2004 The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 26 15028842
2020 Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 25 31937901
2017 Spatiotemporal changes in the distribution of LHFPL5 in mice cochlear hair bundles during development and in the absence of PCDH15. PloS one 25 29069081
2006 Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. Oncogene 23 16369489
2014 Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss. Journal of human genetics 22 24965255
2024 PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models. The Journal of clinical investigation 21 39441757
2017 Integrin α8 and Pcdh15 act as a complex to regulate cilia biogenesis in sensory cells. Journal of cell science 20 28883094
2018 Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment. BMC medical genetics 19 30029624
2009 A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. Human genetics 19 19816713
2012 Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 18 23035094
2003 A new spontaneous mutation in the mouse Ames waltzer gene, Pcdh15. Hearing research 18 12782354
2021 Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome. eLife 17 34751129
2023 Dual AAV-based PCDH15 gene therapy achieves sustained rescue of visual function in a mouse model of Usher syndrome 1F. Molecular therapy : the journal of the American Society of Gene Therapy 14 37864333
2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I. Molecular vision 13 22815625
2016 Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PloS one 12 27058588
2020 A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1. Frontiers in genetics 10 32714370
2010 Analysis of subcellular localization of Myo7a, Pcdh15 and Sans in Ush1c knockout mice. International journal of experimental pathology 10 21156003
2015 Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23. International journal of pediatric otorhinolaryngology 9 25930172
2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F. The Journal of molecular diagnostics : JMD 9 25307757
2016 In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype. International journal of ophthalmology 7 27275418
2024 Mice with deficiency in Pcdh15, a gene associated with bipolar disorders, exhibit significantly elevated diurnal amplitudes of locomotion and body temperature. Translational psychiatry 6 38806495
2023 Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep-intronic variant in a Chinese child with profound hearing loss. Molecular genetics & genomic medicine 6 37232061
2023 PCDH15 Dual-AAV Gene Therapy for Deafness and Blindness in Usher Syndrome Type 1F. bioRxiv : the preprint server for biology 6 38014037
2015 Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss. International journal of pediatric otorhinolaryngology 6 26279247
2009 Characterization of the Kyoto circling (KCI) rat carrying a spontaneous nonsense mutation in the protocadherin 15 (Pcdh15) gene. Experimental animals 6 19151506
2022 Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 5 35651951
2022 Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa. BMC ophthalmology 4 36384460
2017 The Effect of PCDH15 Gene Variations on the Risk of Noise-induced Hearing Loss in a Chinese Population. Biomedical and environmental sciences : BES 3 28292353
2025 Outcomes of cochlear implants in patients with PCDH15 mutations: a clinical study. Frontiers in genetics 1 40486680
2025 Role of Pcdh15 in the development of intrinsic polarity of inner ear hair cells. PLoS genetics 1 40802839
2025 Compound heterozygous variants in PCDH15 non-coding regions in an Usher Syndrome Type 1F patient: minigene assay reveals pathogenicity of c.3123-1G>C. Ophthalmic genetics 1 41131664
2022 [Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 35315041
2026 A Novel Intronic Variant Causes Aberrant Splicing of PCDH15 in a Family With Usher Syndrome Type 1F. Molecular genetics & genomic medicine 0 41511851
2026 The Impact of Pcdh15 Deficiency on Cellular Energy Metabolism and Oxidative Stress, and Its Role and Mechanism in Hearing Loss. Clinical and experimental otorhinolaryngology 0 41548882
2026 Identification of a recessive PCDH15 nonsense variant in purebred goats with vestibular dysfunction. Veterinary and animal science 0 41907450
2026 Overlapping expression and co-operative function of the zebrafish pcdh15 paralogs. Communications biology 0 42151386
2026 Cryo-EM reveals a right-handed double-helix dimer architecture of PCDH15. Proceedings of the National Academy of Sciences of the United States of America 0 42263124
2025 [Analysis of pathogenic variant carriage for MYO7A, PCDH15, and CDH23 genes among newborns based on high-throughput sequencing technique]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 41230578
2024 A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree. BMC ophthalmology 0 39187782

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