ArticleJournal of translational medicine2014
Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.
Article in Journal of translational medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 2 of them syntheses that pooled it.
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Who cites it
34 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.BMC medical genomics · 2023Pooled it
- Genotype-Phenotype Correlations of PathogenicBiomolecules · 2022Pooled it
- Exploring AAV-Mediated Gene Therapy for Inner Ear Diseases: from Preclinical Success to Clinical Potential.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Review
- Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss.European journal of medical research · 2025Article
- Screening for Hearing Impairment in Newborns Using Targeted Genomic Sequencing: A Large Pilot Cohort Study.Clinical and experimental otorhinolaryngology · 2025Article
- Molecular evolution of toothed whale genes reveals adaptations to echolocating in different environments.BMC genomics · 2024Article
- Clinical Characteristics and Audiological Profiles of Patients with Pathogenic Variants ofJournal of clinical medicine · 2024Article
- Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.European journal of human genetics : EJHG · 2023Article
- Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review.Biomedicines · 2023Review
- Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to PathogenicJournal of clinical medicine · 2022Article
- De NovoInternational journal of molecular sciences · 2022Article
- A Novel MissenseBioMed research international · 2022Article
- DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.Audiology research · 2021Article
- A MissenseBioMed research international · 2021Article
- Aldh inhibitor restores auditory function in a mouse model of human deafness.PLoS genetics · 2020Article
- Gene therapy development in hearing research in China.Gene therapy · 2020Review
- Genetic tests by next-generation sequencing in children with developmental delay and/or intellectual disability.Clinical and experimental pediatrics · 2020Article
- Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.Journal of cellular and molecular medicine · 2020Article
- Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls.European journal of human genetics : EJHG · 2020Article
- Four Novel Variants inNeural plasticity · 2020Article
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Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hearing loss is genetically heterogeneous, and hundreds of mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the causative gene mutations involved. In this study, we combined targeted genomic capture and massively parallel sequencing (MPS) to address this issue.
methodsUsing targeted genomic capture and MPS, 104 genes and three microRNA regions were selected and simultaneously sequenced in 23 unrelated probands of Chinese families with nonsyndromic hearing loss. The results were validated by Sanger sequencing for all available members of the probands' families. To analyze the possible pathogenic functional effects of the variants, three types of prediction programs (Mutation Taster, PROVEAN and SIFT) were used. A total of 195 healthy Chinese Han individuals were compared as controls to verify the novel causative mutations.
resultsOf the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal dominant nonsyndromic hearing loss. These included one novel in-frame indel mutation, three novel missense mutations and two reported missense mutations. Furthermore, one proband from a family with recessive DFNB carried two monoallelic mutations in the GJB2 and USH2A genes. All of these mutations co-segregated with the hearing loss phenotype in 36 affected individuals from 7 families and were predicted to be pathogenic.
conclusionsMutations in uncommon deafness genes contribute to a portion of nonsyndromic deafness cases. In the future, critical gene mutations may be accurately and quickly identified in families with hereditary hearing loss by targeted genomic capture and MPS.
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