ArticlePloS one2014
Whole-exome sequencing to decipher the genetic heterogeneity of hearing loss in a Chinese family with deaf by deaf mating.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Identification of novel MYH14 variants in families with autosomal dominant sensorineural hearing loss.American journal of medical genetics. Part A · 2024Article
- Genotype and Phenotype Analyses of a NovelGenes · 2023Article
- Article
- The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.BMC ophthalmology · 2020Article
- A novel MYH14 mutation in a Chinese family with autosomal dominant nonsyndromic hearing loss.BMC medical genetics · 2020Article
- A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss.PloS one · 2019Article
- Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.Scientific reports · 2018Article
- Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.BMC medical genomics · 2018Article
- Hearing impairment caused by mutations in two different genes responsible for nonsyndromic and syndromic hearing loss within a single family.Journal of applied genetics · 2018Article
- Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of Care.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2015Review
- Article
- Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.PloS one · 2015Article
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Inherited deafness has been shown to have high genetic heterogeneity. For many decades, linkage analysis and candidate gene approaches have been the main tools to elucidate the genetics of hearing loss. However, this associated study design is costly, time-consuming, and unsuitable for small families. This is mainly due to the inadequate numbers of available affected individuals, locus heterogeneity, and assortative mating. Exome sequencing has now become technically feasible and a cost-effective method for detection of disease variants underlying Mendelian disorders due to the recent advances in next-generation sequencing (NGS) technologies. In the present study, we have combined both the Deafness Gene Mutation Detection Array and exome sequencing to identify deafness causative variants in a large Chinese composite family with deaf by deaf mating. The simultaneous screening of the 9 common deafness mutations using the allele-specific PCR based universal array, resulted in the identification of the 1555A>G in the mitochondrial DNA (mtDNA) 12S rRNA in affected individuals in one branch of the family. We then subjected the mutation-negative cases to exome sequencing and identified novel causative variants in the MYH14 and WFS1 genes. This report confirms the effective use of a NGS technique to detect pathogenic mutations in affected individuals who were not candidates for classical genetic studies.
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