Gene: PCDH15

Alternate names for this Gene: CDHR15|DFNB23|USH1F

Gene Summary: This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.1

Description of this Gene: protocadherin related 15

Type of Gene: protein-coding

rs4935555 in PCDH15 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs1930170 in PCDH15 gene and Age at menarche PMID 26312577 2015 Bivariate Genome-Wide Association Study Implicates ATP6V1G1 as a Novel Pleiotropic Locus Underlying Osteoporosis and Age at Menarche.

rs11004733 in PCDH15 gene and Bipolar Disorder PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs72794963 in PCDH15 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12245299 in PCDH15 gene and Chronic Obstructive Airway Disease PMID 25514360 2015 Genome-Wide Association Study Identification of Novel Loci Associated with Airway Responsiveness in Chronic Obstructive Pulmonary Disease.

rs111033260 in PCDH15 gene and Deafness, Autosomal Recessive 23 PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 24105371 2014 Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

PMID 28281779 2017 Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

PMID 14570705 2003 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

PMID 18719945 2008 Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

rs146977851 in PCDH15 gene and Duration of sleep PMID 27992416 2017 Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits.

rs6481128 in PCDH15 gene and Extraversion (Psychology) PMID 27918536 2017 Genome-wide analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders.

rs10825507 in PCDH15 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs11004733 in PCDH15 gene and Major Depressive Disorder PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs10763170 in PCDH15 gene and Pituitary Adenoma PMID 26029870 2015 Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.

rs16906916 in PCDH15 gene and Rheumatoid Arthritis PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

rs4935555 in PCDH15 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11004733 in PCDH15 gene and Schizophrenia PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs962472 in PCDH15 gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs11004733 in PCDH15 gene and Suicide attempt PMID 31164008 2019 GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores.

rs111033260 in PCDH15 gene and USHER SYNDROME, TYPE ID PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26872967 2016 Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

rs111033260 in PCDH15 gene and Usher Syndrome, Type I PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

PMID 24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

rs1057516342 in PCDH15 gene and Usher Syndrome, Type IF PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 25425308 2014 Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

PMID 15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.

PMID 25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.

PMID 18719945 2008 Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.

PMID 23451239 2013 Study of USH1 splicing variants through minigenes and transcript analysis from nasal epithelial cells.

PMID 27743452 2017 The combination of vestibular impairment and congenital sensorineural hearing loss predisposes patients to ocular anomalies, including Usher syndrome.

PMID 22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.

PMID 12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.

PMID 15028842 2004 The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 25404053 2014 Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

PMID 11398101 2001 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.

PMID 21436283 2011 Four-year follow-up of diagnostic service in USH1 patients.

PMID 11487575 2001 Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.

PMID 19683999 2010 Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.

PMID 24705292 2014 The molecular basis of retinal dystrophies in pakistan.

PMID 24940003 2014 The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.

PMID 16963483 2007 Development of a genotyping microarray for Usher syndrome.

PMID 27440999 2016 Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

PMID 26791358 2016 Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 26445815 2015 Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

PMID 18484607 2008 UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.

PMID 19375528 2009 Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F.

PMID 24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

PMID 15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.

PMID 14570705 2003 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

PMID 16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

PMID 22135276 2012 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.

PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.

PMID 25575603 2015 Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis.