Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India

GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

“…Similar results were observed in American, Moroccan, and Indian NSHI. The allele frequencies of variants in GJB3 and GJB6 were estimated to be “0‐2.78%” and “0%‐1.42%” respectively. Our present results, in combination with preceding studies, suggest that the effect of GJB3 and GJB6 in GJB2 carriers may not be predominant.…”

“…Great efforts have been made toward clarifying the contributions of GJB3 and GJB6 mutations to deafness in diverse populations during the past decades . To address this issue, Yang et al screened 380 Chinese (260 with NSHI and 120 with normal hearing) for variants in eight connexin genes.…”

Mutation analysis of common GJB2 , SCL26A4 and 12S rRNA genes among 380 deafness patients in northern China

“…Genomic DNA was extracted from the peripheral blood using TIANamp Blood DNA Kits (TIANGEN BIOTECH CO.LTD Beijing, China) according to the manufacturer's instruction. Primer sequences for amplifying the entire coding regions of GJB2 and SLC26A4 were reported in previous study [4]. 12S rRNA m.1555A>G was amplified by Alw26I digestion as described previously [5].…”

Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population

“…However, congenital deafness does not occur in all infants born to mothers exposed to such risk factors, suggesting that the development of this condition also has a genetic component (Leibovici et al, 2008;Faundes et al, 2012). To date, several studies have revealed that many genetic factors contribute to the development of this disease, including the genes MYO3A, SLC26A4, CDH23, and PTPRQ (Adhikary et al, 2015;Menezes et al, 2015;Mizutari et al, 2015;Sakuma et al, 2015;Qu et al, 2016).…”