ArticleJournal of translational medicine2014
Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum.
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 19 papers.
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Who cites it
19 citing papers in PubMed, 32 citations in OpenAlex.
- A New Genetic Diagnostic for Enlarged Vestibular Aqueduct Based on Next-Generation Sequencing.PloS one · 2016Trial
- Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.Journal of medical genetics · 2026Article
- Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Scientific reports · 2026Article
- Targeted genetic screening for identifying carrier status and early-onset disease risks in Chinese newborns.Communications medicine · 2025Article
- Deficient Gap Junction Coupling in Two Common Hearing Loss-Related Variants of GJB2.Clinical and experimental otorhinolaryngology · 2024Article
- Low frequency of SLC26A4 c.919-2A > G variant among patients with nonsyndromic hearing loss in Yunnan of Southwest China.BMC medical genomics · 2024Article
- Multicolor melting curve analysis discloses high carrier frequency of hearing loss-associated variants among neonates in Jiangsu province.Molecular genetics & genomic medicine · 2024Observational
- Exonic Deletions and Deep Intronic Variants of theHuman mutation · 2024Article
- A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.Journal of translational medicine · 2023Article
- Article
- Non-syndromic enlarged vestibular aqueduct caused by novel compound mutations of theFrontiers in genetics · 2023Article
- Report of rare and novel mutations in candidate genes in a cohort of hearing-impaired patients.Molecular genetics & genomic medicine · 2022Article
- Increased diagnosis of enlarged vestibular aqueduct by multiplex PCR enrichment and next-generation sequencing of the SLC26A4 gene.Molecular genetics & genomic medicine · 2021Article
- GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?Journal of clinical laboratory analysis · 2018Article
- Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.Medicine · 2018Observational
- A Novel Frameshift Mutation ofClinical and experimental otorhinolaryngology · 2017Article
- The R130S mutation significantly affects the function of prestin, the outer hair cell motor protein.Journal of molecular medicine (Berlin, Germany) · 2016Article
- GJB2 and mitochondrial 12S rRNA susceptibility mutations in sudden deafness.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2016Article
- Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation.BMC genetics · 2016Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRacial and regional factors are important for the clinical diagnosis of non-syndromic hearing impairment. Comprehensive genetic analysis of deaf patients in different regions of China must be performed to provide effective genetic counseling. To evaluate the mutational spectrum of south Chinese families, we performed genetic analysis for non-syndromic hearing impairment in this population.
methodsComplete clinical evaluations were performed on 701 unrelated patients with non-syndromic hearing impairment from six provinces in south China. Each subject was screened for common mutations, including SLC26A4 c.IVS7-2A > G, c.2168A > G; mitochondrial DNA m.1555A > G, m.1494C > T, m.7444G > A, m.7445A > G; GJB3 c.538C > T, c.547G > A; and WFS1 c.1901A > C, using pyrosequencing. GJB2 and SLC26A4 coding region mutation detection were performed using Sanger sequencing.
resultsGenetic analysis revealed that among the etiology of non-syndromic hearing impairment, GJB2, SLC26A4, and mitochondrial m.1555A > G mutations accounted for 18.0%, 13.1%, and 0.9%, respectively. Common mutations included GJB2 c.235delC, c.109G > A, SLC26A4 c.IVS7-2A > G, c.1229 T > C, and mitochondrial m.1555A > G. The total mutation rate was 45.1% in all patients examined in south China. Overall, the clear contribution of GJB2, SLC26A4, and mitochondrial m.1555A > G to the etiology of the non-syndromic deafness population in south China was 32.0%.
conclusionsOur study is the first genetic analysis of non-syndromic hearing impairment in south China, and revealed that a clear genetic etiology accounted for 32.0% of non-syndromic hearing cases in patients from these regions. The mutational spectrum of non-syndromic hearing impairment in the south Chinese population provides useful and targeted information to aid in genetic counseling.
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