Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2

Prevalence of GJB6 mutations in Chinese patients with non-syndromic hearing loss

“…Previous studies from other ethnic populations have also reported the absence of del GJB6-(D13S1830) deletions in NSHL patients in Japanese [26], Korean [27], Indian [28], Turkish [29], Iran [30], Jordanian [31], and Greek Cypriot and Austria patients [32,33]. Del(GJB6-D13S1830) mutation occurs much more frequently in Spain, Israel, United kingdom, Argentina and France, while it is less frequent in the USA, Brazil, Belgium and Australia [5][6][7][8][9]11,34]. The incidence of del(GJB6-D13S1830) in hearing loss patients with different ethnicities indicates that this deletion is restricted to certain populations and could be rare or absent in Chinese population.…”

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations

“…Up to 50% of GJB2 heterozygotes have a large deletion around the GJB6 gene. 42 The del(GJB6-D13S1830), the most frequent mutation in Spain, 42 France, 42,43 Argentina, 44 Brazil 45 and the United Kingdom, 42 has not been found in Iranian populations, 24,26,27,46,47 suggesting the existence of point mutations in regulatory elements of the gene, and possibly different breakpoints around the gene and/or another gene(s). Moreover, these deletions have not been reported in Turkey, 48 India, 49 China and Croatia.…”

Prevalence of IVS1+1G>A mutation among Iranian Azeri Turkish patients with autosomal recessive non-syndromic hearing loss (ARNSHL)

“…It should be noted that different results have been reported in various population, i.e. the frequency of this mutation in Turkey, Croatia, China, India, Palestine, Brazil, Yakut population in Sakha Republic (Russian Federation), Hungry and Argentina 1.4%, 0.9%, 1.89%, 5%, 1%, 4.6%, 11.7%, 23.4%, 3% is reported respectively [5,13,14,16,17,19,[24][25][26]. In Iran few studies have been reported but the reported results are noticeable and the spectrum varies between 0.2% and 9.4% [1,22].…”