English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Background  Recessive 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.    Methods  We 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.    Results  Bi-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.    Conclusions  Our 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.

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations