Mutational analysis forGJB2, GJB6, andGJB3genes in Campania within a universal neonatal hearing screening programme

Abstract

This study confirms the importance of universal neonatal hearing screening. The identification of a genetic cause in infants at environmental risk indicates that such infants should be included when investigating etiology. We confirm that also in our geographical area, c.35delG homozygotes tend to have severe symmetrical hearing loss, whereas hearing impairment is milder in compound heterozygotes.

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

“…Only three patients possessed heterozygote c.520G>A in GJB3 (3/260; 1.15%) and another individual (1/260; 0.38%) was carrier of GJB6 c.119C>T mutation . Likewise, a genetic study of 129 Italian NSHI infants for GJB6 and GJB3 genes found no mutation . Similar results were observed in American, Moroccan, and Indian NSHI.…”

“…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.…”

“…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. 8,10,11,13,18,[25][26][27][28][29] Likewise, a genetic study of 129 Italian NSHI infants for GJB6 and GJB3 genes found no mutation. 28 Similar results were observed in American, 10 Moroccan, 25 and Indian 29 NSHI.…”

“…8,10,11,13,18,[25][26][27][28][29] Likewise, a genetic study of 129 Italian NSHI infants for GJB6 and GJB3 genes found no mutation. 28 Similar results were observed in American, 10 Moroccan, 25 and Indian 29 NSHI. The allele frequencies of variants in GJB3 and GJB6 were estimated to be "0-2.78%" 8,10,13,[25][26][27][28] and "0%- This study has several weaknesses.…”