ArticleEuropean journal of human genetics : EJHG2009
Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
Article in European journal of human genetics : EJHG, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 25 papers.
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25 citing papers in PubMed, 39 citations in OpenAlex.
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Nanomechanics of wild-type and mutant dimers of the inner-ear tip-link protein protocadherin 15.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- A novel compound heterozygous PCDH15 variants is associated with arRP in a Chinese pedigree.BMC ophthalmology · 2024Article
- Nanomechanics of wild-type and mutant dimers of the tip-link protein protocadherin 15.bioRxiv : the preprint server for biology · 2023Article
- 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 · 2023Article
- Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F.Nature communications · 2023Article
- The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.Journal of clinical laboratory analysis · 2023Article
- Identification of four novel variants in theFrontiers in genetics · 2022Article
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Usher Syndrome: Genetics of a Human Ciliopathy.International journal of molecular sciences · 2021Review
- Single-molecule force spectroscopy reveals the dynamic strength of the hair-cell tip-link connection.Nature communications · 2021Article
- Functional, Morphological, and Evolutionary Characterization of Hearing in Subterranean, Eusocial African Mole-Rats.Current biology : CB · 2020Article
- Inframe deletion of humanJournal of medical genetics · 2018Article
- A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.Human genetics · 2017Article
- Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing.Journal of human genetics · 2016Article
- In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.International journal of ophthalmology · 2016Article
- Common variants at 10p12.31, 10q21.1 and 13q12.13 are associated with sporadic pituitary adenoma.Nature genetics · 2015Article
- Peptide Lv augments L-type voltage-gated calcium channels through vascular endothelial growth factor receptor 2 (VEGFR2) signaling.Biochimica et biophysica acta · 2015Article
- Usher syndrome: Hearing loss, retinal degeneration and associated abnormalities.Biochimica et biophysica acta · 2015Review
- Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.European journal of human genetics : EJHG · 2013Article
Corrections and comments
- Erratum issuedShotland, Larry [corrected to Shotland, Lawrence I]; Li, X C [corrected to Li, Xiaoyan Cindy]
Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
Abstract
We studied a consanguineous family (Family A) from the island of Newfoundland with an autosomal recessive form of prelingual, profound, nonsyndromic sensorineural hearing loss. A genome-wide scan mapped the deafness trait to 10q21-22 (max LOD score of 4.0; D10S196) and fine mapping revealed a 16 Mb ancestral haplotype in deaf relatives. The PCDH15 gene was mapped within the critical region and was an interesting candidate because truncating mutations cause Usher syndrome type IF (USH1F) and two missense mutations have been previously associated with isolated deafness (DFNB23). Sequencing of the PCDH15 gene revealed 33 sequencing variants. Three of these variants were homozygous exclusively in deaf siblings but only one of them was not seen in ethnically matched controls. This novel c.1583 T>A transversion predicts an amino-acid substitution of a valine with an aspartic acid at codon 528 (V528D). Like the two DFNB23 mutations, the V528D mutation in Family A occurs in a highly conserved extracellular cadherin (EC) domain of PCDH15 and is predicted to be more deleterious than the previously identified DFNB23 missense mutations (R134G and G262D). Physical assessment, vestibular and visual function testing in deaf adults ruled out syndromic deafness because of Usher syndrome. This study validates the DFNB23 designation and supports the hypothesis that missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss. This emerging genotype-phenotype correlation in USH1F is similar to that in several other USH1 genes and cautions against a prognosis of a dual sensory loss in deaf children found to be homozygous for hypomorphic mutations at the USH1F locus.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.