ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. 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 95 papers, 2 of them syntheses that pooled it.
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Who cites it
95 citing papers in PubMed, 2 syntheses or guidelines pooled it, 158 citations in OpenAlex.
- Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.Bioscience reports · 2021Pooled it
- Prevalence and Characteristics of STRC Gene Mutations (DFNB16): A Systematic Review and Meta-Analysis.Frontiers in genetics · 2021Pooled it
- Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment.Journal of applied genetics · 2025Article
- A Novel 1259 bp Intragenic Deletion in theAudiology research · 2025Article
- AAV gene therapy rescues hearing and balance in a model of CLIC5 deafness.EMBO molecular medicine · 2025Article
- IsMedComm · 2025Article
- The clinical and genetic spectrum of twenty-six individuals with hearing loss affected by MYO15A variants.Scientific reports · 2025Article
- Structure-Function Diversity of Calcium-Binding Proteins (CaBPs): Key Roles in Cell Signalling and Disease.Cells · 2025Review
- Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.Heliyon · 2024Article
- [Late-onset hereditary hearing loss caused byLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Advance and Application of Single-cell Transcriptomics in Auditory Research.Neuroscience bulletin · 2024Review
- Article
- A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.NAR genomics and bioinformatics · 2024Article
- Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.American journal of medical genetics. Part A · 2024Article
- Article
- Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss.The application of clinical genetics · 2024Article
- Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.Frontiers in genetics · 2024Article
- Dispersed DNA variants underlie hearing loss in South Florida's minority population.Human genomics · 2023Article
- Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.Journal of human genetics · 2023Article
- Rescue of auditory function by a single administration of AAV-TMPRSS3 gene therapy in aged mice of human recessive deafness DFNB8.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
35 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
31 authors at 13 institutions in 4 countries.
Funding
Abstract
purposeAutosomal recessive nonsyndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity, with reported mutations in 58 different genes. This study was designed to detect deafness-causing variants in a multiethnic cohort with ARNSD by using whole-exome sequencing (WES).
methodsAfter excluding mutations in the most common gene, GJB2, we performed WES in 160 multiplex families with ARNSD from Turkey, Iran, Mexico, Ecuador, and Puerto Rico to screen for mutations in all known ARNSD genes.
resultsWe detected ARNSD-causing variants in 90 (56%) families, 54% of which had not been previously reported. Identified mutations were located in 31 known ARNSD genes. The most common genes with mutations were MYO15A (13%), MYO7A (11%), SLC26A4 (10%), TMPRSS3 (9%), TMC1 (8%), ILDR1 (6%), and CDH23 (4%). Nine mutations were detected in multiple families with shared haplotypes, suggesting founder effects.
conclusionWe report on a large multiethnic cohort with ARNSD in which comprehensive analysis of all known ARNSD genes identifies causative DNA variants in 56% of the families. In the remaining families, WES allows us to search for causative variants in novel genes, thus improving our ability to explain the underlying etiology in more families.Genet Med 18 4, 364-371.
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