ArticleOrphanet journal of rare diseases2020
Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations.
Article in Orphanet journal of rare diseases, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- XLA-MTS: a distinct clinical genetic entity characterized by immunodeficiency and neurodevelopmental delay.Orphanet journal of rare diseases · 2026Pooled it
- The landscape of gene mutations in a cohort of 3353 Han Chinese children with nonsyndromic hearing loss.EBioMedicine · 2026Article
- External quality assessment of genetic testing for hereditary hearing loss in Shanghai and other regions.Practical laboratory medicine · 2025Article
- [Clinical hearing phenotypes analysis ofLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Genome Sequencing Unveils the Role of Copy Number Variants in Hearing Loss and Identifies Novel Deletions With Founder Effect in the DFNB1 Locus.Human mutation · 2024Article
- [Genetic characteristic analysis of slight-to-moderate sensorineural hearing loss in children].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024Article
- Article
- Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.Molecular genetics & genomic medicine · 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
- Analysis of Genetic Variations in Connexin 26 (Global medical genetics · 2022Article
- A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family.BMC medical genomics · 2022Article
- Increased diagnostic yield in a cohort of hearing loss families using a comprehensive stepwise strategy of molecular testing.Frontiers in genetics · 2022Article
- The Cause of Hereditary Hearing Loss inGenes · 2021Article
- Molecular alteration in the Gap Junction Beta 2 (Intractable & rare diseases research · 2021Article
- A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts.Molecular genetics & genomic medicine · 2020Article
- Targeted Next-Generation Sequencing Identified Compound Heterozygous Mutations inNeural plasticity · 2020Article
- Hearing Phenotypes of Patients with Hearing Loss Homozygous for theNeural plasticity · 2020Article
- Compound Heterozygous Mutations inNeural plasticity · 2020Article
- Audiological Phenotype, Natural History, and Intervention in Chinese Patients With Auditory Neuropathy Caused by OTOF Variants.Ear and hearingArticle
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7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRecessive mutations in GJB2 is the most common cause of genetic hearing loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 variants in Chinese Han deaf patients and to investigate the underlying causative genes in patients with mono-allelic GJB2 mutations.
methodsWe analyzed the mutation screening results of GJB2 in 1852 Chinese Han probands with apparently autosomal-recessive hearing loss in our laboratory. Targeted next-generation sequencing of 139 known deafness-related genes were performed in 44 probands with mono-allelic GJB2 mutations.
resultsBi-allelic GJB2 mutations was identified in 25.65% of patients, in which the c.235delC (p.L79Cfs*3) mutation is the most frequent cause for both severe-to-profound (84.93%) and mild-to-moderate hearing loss (54.05%), while the c.109G > A (p.V37I) mutation is another frequent cause for mild-to-moderate hearing loss (40.54%). In 3.89% of patients only one mutant allele can be identified in GJB2. Targeted next generation sequencing in 44 such probands revealed digenic heterozygous mutations in GJB2/GJB6 and GJB2/GJB3 as the likely pathogenic mechanism in three probands. In 13 probands, on the other hand, pathogenic mutations in other deafness-associated genes (STRC, EYA1, MITF, PCDH15, USH2A, MYO15A, CDH23, OTOF, SLC26A4, SMPX, and TIMM8A) can be identified as the independent genetic cause, suggesting that the mono-allelic GJB2 mutations in those probands is likely co-incidental.
conclusionsOur results demonstrated that GJB2 should be a primary target for mutation screening in Chinese Han deaf patients, and those with mono-allelic GJB2 mutations should be further screened by next generation sequencing.
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