GJB2 (connexin 26) gene mutations in Moroccan patients with autosomal recessive non-syndromic hearing loss and carrier frequency of the common GJB2–35delG mutation

Absence of GJB6 mutations in Indian patients with non-syndromic hearing loss

“…Our findings are supported by a recent study by Padma et al which has also reported absence of del(GJB6-D13S1830) or any point mutations in GJB6 gene in NSHL subjects from South India [13]. Previous studies from other ethnic populations have also reported the absence of del GJB6-(D13S1830) deletions in NSHL patients in Japanese [14], Turkish [15], African American and Caribbean Hispanic [16] and Moroccan populations [17], Chinese patients [18] and Jordanian patients [19]. More recently, analysis of a large unselected newborn population group from New York State also failed to detect this deletion [20].…”

Absence of GJB3 and GJB6 mutations in Moroccan familial and sporadic patients with autosomal recessive non-syndromic deafness

“…In Morocco, previous studies indicated that mutations at the GJB2 are the major cause of autosomal recessive deafness [15][16] especially, the 35delG. In this gene two other mutations were also reported V37I and E47X [16] while point mutations in GJB6 and GJB3 were not looked for.…”

“…In this gene two other mutations were also reported V37I and E47X [16] while point mutations in GJB6 and GJB3 were not looked for.…”

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

“…Next to the usual genes related to hearing loss published previously in Morocco, mainly GJB2 (Abidi et al, 2007;Abidi et al, 2008), LRTOMT (Charif et al, 2012) and also MT-RNR1 (Nahili et al, 2010), we here describe the first mutation in the TMC1 gene in the Moroccan population affected by ARNSHL, a gene which was already identified as causative for DFNA36 and DFNB7/11 deafness presentations (Kurima et al, 2002).…”