Affinage

PCDH15

Protocadherin-15 · UniProt Q96QU1

Length
1955 aa
Mass
216.1 kDa
Annotated
2026-04-29
57 papers in source corpus 16 papers cited in narrative 15 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PCDH15 is a transmembrane protocadherin essential for mechanosensory transduction in inner ear hair cells and for photoreceptor maintenance in the retina. It forms cis-homodimers through EC2-EC3 and membrane-proximal interfaces to assemble the tip link complex, and mutations disrupting these dimerization contacts impair mechanotransduction; PCDH15 also anchors the MET complex component LHFPL5 at stereocilia tips and interacts with harmonin (USH1C) via PDZ2 to integrate into the USH1 protein network (PMID:30057206, PMID:29069081, PMID:15928608). The CD2 cytoplasmic isoform has a distinct role in establishing intrinsic hair cell polarity through a Gpsm2-dependent pathway that controls kinocilium positioning, independent of its tip-link function (PMID:21427143, PMID:40802839). Loss-of-function mutations cause Usher syndrome type 1F (combined congenital deafness and retinitis pigmentosa), with the retinal pathology linked to defective light-dependent translocation of phototransduction proteins and impaired retinoid cycling in the RPE (PMID:11398101, PMID:34751129). Rationally engineered mini-PCDH15 proteins with deleted EC repeats, delivered by AAV, rescue tip-link formation and hearing in USH1F mouse models, establishing a gene therapy framework (PMID:37100771).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 2001 High

    Identification of PCDH15 as a hair-cell protocadherin whose loss causes stereocilia disorganization and deafness resolved the molecular basis of the Ames waltzer mouse and linked the gene to inner ear mechanosensory function.

    Evidence Positional cloning of the Ames waltzer locus combined with scanning electron microscopy of cochlear hair cells in mutant mice

    PMID:11138007

    Open questions at the time
    • Molecular mechanism by which PCDH15 organizes stereocilia was unknown
    • Retinal role not yet examined in mouse model
  2. 2001 High

    Demonstrating that PCDH15 mutations cause Usher syndrome type 1F in humans established a direct genotype-to-disease link and showed expression in both cochlea and retina, predicting dual sensory organ function.

    Evidence Human genetic studies in USH1F families, Northern blot and immunocytochemistry for tissue expression

    PMID:11398101 PMID:11487575

    Open questions at the time
    • Subcellular localization within hair cells and photoreceptors not resolved
    • Whether missense vs. truncating mutations correlate with disease severity was untested
  3. 2003 High

    Localizing PCDH15 to stereocilia and establishing that hypomorphic alleles cause non-syndromic deafness (DFNB23) while null alleles cause syndromic USH1F revealed a genotype-phenotype gradient tied to residual protein function.

    Evidence Immunocytochemistry on inner ear and retinal sections, mutation analysis across patient cohorts

    PMID:14570705

    Open questions at the time
    • Which stereocilia substructure (tip link, lateral link, kinociliary link) PCDH15 occupies was unresolved
    • Retinal pathogenic mechanism uncharacterized
  4. 2005 High

    Discovery that PCDH15 physically binds harmonin via PDZ2 and co-localizes with it at photoreceptor synaptic terminals and outer segment bases placed PCDH15 within the USH1 multiprotein complex and implicated it in photoreceptor disk morphogenesis.

    Evidence GST pull-down, yeast two-hybrid, immunofluorescence and immunoelectron microscopy in retinal sections

    PMID:15928608

    Open questions at the time
    • Functional consequence of disrupting the PCDH15-harmonin interaction in vivo was not tested
    • Whether PCDH15 directly participates in disk morphogenesis or merely localizes there remained open
  5. 2005 High

    The Drosophila ortholog Cad99C demonstrated an evolutionarily conserved role in controlling apical microvillus length, with the extracellular domain sufficient for outgrowth, establishing that this protocadherin family has an ancient actin-protrusion organizing function.

    Evidence Drosophila loss-of-function and overexpression genetics, confocal imaging, domain deletion analysis in follicle cells

    PMID:16260500

    Open questions at the time
    • Whether the mammalian PCDH15 extracellular domain alone can promote stereocilia elongation was untested
    • Mechanism of extracellular domain–actin coupling unknown
  6. 2010 Medium

    Showing that harmonin is required for correct PCDH15 localization in cochlear hair cells established bidirectional dependence within the USH1 network, not merely a static interaction.

    Evidence Immunofluorescence of cochlear sections from Ush1c−/− knockout mice

    PMID:21156003

    Open questions at the time
    • Mechanism of harmonin-dependent PCDH15 retention (direct tethering vs. trafficking regulation) unresolved
    • Single-lab finding without reciprocal rescue
  7. 2011 High

    Isoform-specific knockouts revealed that PCDH15-CD2 uniquely controls kinociliary links and planar cell polarity of hair bundles, while CD1 and CD3 function redundantly at tip links, resolving how alternative splicing diversifies PCDH15 function.

    Evidence Three isoform-specific mouse knockout lines with ABR, immunofluorescence, and SEM phenotyping

    PMID:21427143

    Open questions at the time
    • The signaling pathway downstream of PCDH15-CD2 controlling polarity was not identified
    • Whether PCDH15-CD2 acts at kinociliary links or at an earlier step was unclear
  8. 2017 High

    PCDH15 was shown to be required for anchoring LHFPL5 at stereocilia tips, linking PCDH15 directly to assembly of the mechanotransduction channel complex rather than merely providing tip-link tension.

    Evidence Immunofluorescence and immunogold EM in Pcdh15-deficient vs. wild-type mouse cochleae across postnatal development

    PMID:29069081

    Open questions at the time
    • Whether PCDH15-LHFPL5 interaction is direct or requires intermediate partners was not determined
    • Stoichiometry of the PCDH15-LHFPL5-TMC complex unknown
  9. 2017 Medium

    Zebrafish studies identified an Integrin-α8–Pcdh15a complex that regulates cilia biogenesis through RhoA and Rab8a, extending PCDH15 function beyond stereocilia to primary sensory cilia development.

    Evidence Zebrafish morpholino knockdown and mutant analysis, live imaging, rescue with constitutively active RhoA

    PMID:28883094

    Open questions at the time
    • Not yet confirmed in mammalian systems
    • Whether Integrin-α8 interaction is conserved in mammalian hair cells unresolved
    • Mechanism of Pcdh15a-dependent Rab8a recruitment uncharacterized
  10. 2018 High

    Structural determination revealed that PCDH15 forms a parallel cis-homodimer through EC2-EC3 and membrane-proximal contacts arranged as a double-helical assembly, and mutagenesis of these interfaces abolished mechanotransduction, proving cis-dimerization is essential for tip-link function.

    Evidence Cryo-EM, negative-stain EM, biophysical characterization, mutagenesis with functional assay in hair cells

    PMID:30057206

    Open questions at the time
    • Full-length tip-link structure with CDH23 trans-partner not resolved
    • How force propagates through the dimeric assembly to the channel remains modeled but not directly measured
  11. 2021 Medium

    PCDH15 deficiency was shown to impair light-dependent translocation of phototransduction proteins and reduce RPE retinoid cycle enzymes, with pharmacological rescue by 9-cis retinal, establishing a concrete retinal mechanism beyond simple structural adhesion.

    Evidence Longitudinal phenotyping in USH1F mice and humans, ERG, immunolocalization of phototransduction proteins, 9-cis retinal rescue

    PMID:34751129

    Open questions at the time
    • Whether PCDH15 directly affects retinoid transport or acts indirectly through structural disorganization is unresolved
    • Single-lab finding
  12. 2023 High

    Structure-based engineering of mini-PCDH15 proteins with 3–5 EC repeats deleted demonstrated that specific repeats are dispensable for tip-link formation and that AAV-delivered mini-PCDH15 rescues hearing in USH1F mice, establishing therapeutic feasibility.

    Evidence AAV inner ear injection in Pcdh15-deficient mice, ABR, immunofluorescence of tip links

    PMID:37100771

    Open questions at the time
    • Long-term durability of hearing rescue beyond study endpoints not established
    • Whether mini-PCDH15 can also rescue vestibular and retinal phenotypes untested
  13. 2025 High

    PCDH15-CD2 was shown to act before kinociliary link formation to control intrinsic hair cell polarity through genetic interaction with Gpsm2, resolving that its polarity role is independent of and temporally prior to kinociliary link function.

    Evidence Novel Pcdh15-CD2-specific mutant mouse, genetic epistasis with Gpsm2, rescue experiments, immunolocalization

    PMID:40802839

    Open questions at the time
    • Biochemical mechanism linking PCDH15-CD2 cytoplasmic domain to the Gpsm2/Gαi polarity module uncharacterized
    • Whether PCDH15-CD2 directly binds Gpsm2 is unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • Major open questions include the complete atomic structure of the PCDH15-CDH23 tip link in its native dimeric state, the direct mechanism of force gating through the PCDH15-LHFPL5-TMC channel complex, and the precise molecular role of PCDH15 in retinoid cycling and photoreceptor protein translocation.
  • No complete structure of the full-length PCDH15-CDH23 heterodimeric tip link
  • Direct force-transmission mechanism from PCDH15 dimer to MET channel pore not resolved
  • Retinal function of PCDH15 remains correlative — no direct biochemical mechanism identified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098631 cell adhesion mediator activity 4 GO:0005198 structural molecule activity 2 GO:0008092 cytoskeletal protein binding 2
Localization
GO:0005886 plasma membrane 4 GO:0005929 cilium 4 GO:0005856 cytoskeleton 2 GO:0005768 endosome 1
Pathway
R-HSA-9709957 Sensory Perception 7 R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 3 R-HSA-1852241 Organelle biogenesis and maintenance 2
Partners
CDH23GPSM2ITGA8LHFPL5SNAP25USH1C
Complex memberships
Tip link complex (PCDH15-CDH23)USH1 protein complex

Evidence

Reading pass · 15 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 Pcdh15 encodes a novel protocadherin required for normal inner ear hair cell function; loss-of-function mutations cause degeneration of inner ear neuroepithelia and abnormal stereocilia in cochlear hair cells by postnatal day 10 Mouse genetics (Ames waltzer mutant), scanning electron microscopy of cochlear hair cells Nature genetics High 11138007
2001 PCDH15 mutations cause Usher syndrome type 1F (combined deafness and retinitis pigmentosa), with expression in retina and cochlea established by Northern blot and immunocytochemistry Human genetics, Northern blot, immunocytochemistry American journal of human genetics High 11398101 11487575
2003 PCDH15 localizes to inner ear hair cell stereocilia and retinal photoreceptors; hypomorphic (missense) alleles cause non-syndromic hearing loss (DFNB23) while severe (truncating) mutations cause syndromic USH1F, establishing a genotype-phenotype correlation linked to protein function in stereocilia morphogenesis and cohesion Immunocytochemistry, mutation analysis with genotype-phenotype correlation Human molecular genetics High 14570705
2005 PCDH15 (USH1F) interacts with harmonin (USH1C) via harmonin's PDZ2 domain; the two proteins co-localize in photoreceptor cells at the synaptic terminal and at the base of the photoreceptor outer segment, implicating PCDH15 in disk morphogenesis and the USH1 protein complex at the photoreceptor synapse GST pull-down, yeast two-hybrid, immunofluorescence, immunoelectron microscopy Molecular vision High 15928608
2005 Drosophila Cad99C (ortholog of PCDH15) localizes specifically to apical microvilli of follicle cells and controls microvillus length; loss-of-function shortens and disorganizes microvilli, while overexpression dramatically increases length; the extracellular domain is sufficient to promote microvillus outgrowth Drosophila genetics (loss-of-function and overexpression), confocal immunolocalization, domain deletion analysis The Journal of cell biology High 16260500
2011 PCDH15-CD2 isoform (generated by alternative splicing of the cytoplasmic domain) is specifically required for kinociliary links and hair bundle polarization; mice lacking PCDH15-CD2 are deaf with abnormally polarized hair bundles lacking kinociliary links, while PCDH15-CD2 acts downstream of planar cell polarity (PCP) components to control polarity; PCDH15-CD1 and CD3 isoforms can function redundantly at tip links Three separate mouse knockout lines (each lacking one cytoplasmic domain isoform), auditory brainstem response, immunofluorescence, scanning electron microscopy Development (Cambridge, England) High 21427143
2012 Specific PCDH15 variants (apical isoforms) traffic via early endosomal (Rab5-positive) vesicles to the apical pole of hair cells, while basolateral variants associate with membrane microdomains and physically interact with SNAP25 via co-immunoprecipitation, establishing a differential vesicular trafficking mechanism for Usher protein isoforms Confocal colocalization, sucrose density gradients, vesicle trafficking inhibitors, co-immunoprecipitation The Journal of neuroscience Medium 23035094
2017 PCDH15 is required for proper localization of LHFPL5 (a component of the mechanotransduction complex) to stereocilia tips; in PCDH15-deficient mice at P3, LHFPL5 is absent from tips and redistributed to unranked stereocilia and lower lateral links, demonstrating PCDH15 is necessary to anchor LHFPL5 in the MET apparatus Immunofluorescence and immunogold transmission electron microscopy in wild-type and Pcdh15-deficient mice across postnatal development PloS one High 29069081
2017 Integrin α8 (Itga8) forms a complex with Pcdh15a in neuromast hair cell cilia; depletion of the complex disrupts cilia biogenesis and endocytosis by blocking Rab8a entry into cilia and recruitment of ciliary cargo by centriolar satellites; the defect is rescued by constitutively active RhoA, placing the Itga8-Pcdh15a complex upstream of RhoA and actin cytoskeleton dynamics in sensory cilia development Zebrafish loss-of-function (morpholino knockdown and mutation), live imaging, rescue with constitutively active RhoA Journal of cell science Medium 28883094
2018 PCDH15 forms cis-homodimers through dimerization interfaces in the EC2-EC3 extracellular cadherin domain region and in a unique membrane-proximal domain; electron microscopy reveals a parallel double-helical cis-dimeric assembly with cis cross-bridges at these two sites; mutations disrupting dimerization contacts impair mechanotransduction in hair cells, demonstrating that cis-dimerization is essential for PCDH15's mechanosensory function Cryo-EM, negative-stain electron microscopy, biophysical characterization, mutagenesis with functional assay in hair cells Neuron High 30057206
2010 Harmonin (USH1C) is required for proper subcellular localization of PCDH15 in cochlear hair cells; in harmonin-null (Ush1c−/−) mice, PCDH15 is mislocalized from the base of stereocilia/cuticular plate to the apical region of outer hair cells, indicating PCDH15 localization depends on the USH1 protein network Immunofluorescence of cochlear sections and whole-mount preparations from Ush1c−/− knockout mice International journal of experimental pathology Medium 21156003
2021 PCDH15 plays a dual role in photoreceptors and retinal pigment epithelium (RPE): Pcdh15-deficient mice show aberrant light-dependent translocation of phototransduction cascade proteins (arrestin and transducin) and reduced RPE-specific retinoid cycle proteins (RPE65 and CRALBP); exogenous 9-cis retinal improves ERG amplitudes, suggesting PCDH15 is needed for normal retinoid cycling and phototransduction regulation Longitudinal phenotyping in USH1F mice and humans, ERG, immunolocalization of phototransduction proteins, pharmacological rescue with 9-cis retinal eLife Medium 34751129
2023 Rationally designed mini-PCDH15 proteins with 3-5 deleted extracellular cadherin repeats, delivered via AAV, properly form tip links, prevent hair bundle degeneration, and rescue hearing in USH1F mouse models, demonstrating that specific EC repeats are dispensable for tip link formation and mechanotransduction Structure-based protein engineering, AAV inner ear injection in Pcdh15-deficient mice, auditory brainstem response, immunofluorescence of tip links Nature communications High 37100771
2025 PCDH15-CD2 has an early role in intrinsic hair cell polarity through a mechanism independent of kinocilial links: using a novel Pcdh15-CD2 mutant, initial kinocilium deflection occurs but peripheral migration to register with Gαi is perturbed; Pcdh15-CD2 genetically interacts with Gpsm2 to control vestibular function; early PCDH15-CD2 expression is at the base of kinocilia before kinocilial link formation, and re-introduction of PCDH15-CD2 restores polarity Novel mouse mutant (Pcdh15-CD2 isoform-specific), genetic epistasis with Gpsm2, rescue experiments, immunolocalization PLoS genetics High 40802839
2024 Elasticity and thermal stability are key determinants of hearing rescue by mini-PCDH15 proteins: all three mini-PCDH15 versions rescue hair-cell mechanotransduction and form dimers like wild-type, but crystal structures show differential folding/calcium binding, and nano differential scanning fluorimetry reveals differences in melting temperature that correlate with sustained hearing rescue in vivo Crystal structure determination, negative-stain electron microscopy, nano differential scanning fluorimetry, molecular dynamics simulations, hair cell mechanotransduction assay bioRxivpreprint Medium bio_10.1101_2024.06.16.599132

Source papers

Stage 0 corpus · 57 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 328 11398101
2001 The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene. Nature genetics 261 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 228 14570705
2001 Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Human molecular genetics 222 11487575
2011 Regulation of PCDH15 function in mechanosensory hair cells by alternative splicing of the cytoplasmic domain. Development (Cambridge, England) 103 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 50 31540999
2018 Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture. Neuron 42 30057206
2023 Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F. Nature communications 37 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
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
2022 Template-independent genome editing in the Pcdh15av-3j mouse, a model of human DFNB23 nonsyndromic deafness. Cell reports 25 35830793
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
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 23 31937901
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
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
2024 PCDH15 dual-AAV gene therapy for deafness and blindness in Usher syndrome type 1F models. The Journal of clinical investigation 18 39441757
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
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
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 8 25930172
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 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
2025 Role of Pcdh15 in the development of intrinsic polarity of inner ear hair cells. PLoS genetics 0 40802839
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