Connexin 26 mutations in cases of sensorineural deafness in eastern Austria

Abstract

Mutations in the connexin 26 (Cx26) gene (GJB2) are associated with autosomal nonsyndromic sensorineural hearing loss. This study describes mutations in the Cx26 gene in cases of familial and sporadic hearing loss (HL) by gene sequencing and identifies the allelic frequency of the most common mutation leading to HL (35delG) in the population of eastern Austria. For this purpose we have developed and applied a molecular beacon based real-time mutation detection assay. Mutation frequencies in the Cx26 gene of individuals from affected families (14 out of 46) and sporadic cases (11 out of 40) were 30.4% and 27.5%, respectively. In addition to known disease related alterations, a novel mutation 262 G?T (A88S) was also identified. 35delG accounted for almost 77% of all Cx26 mutations detected and displayed an allelic frequency in the normal hearing population of 1.7% (2 out of 120). The high prevalence of the 35delG mutation in eastern Austria would therefore allow screening of individuals and family members with Cx26 dependent deafness by a highly specific and semi-automated method.

Correlação entre dados audiométricos e mutação 35delG em dez pacientes

“…A prevalence of 3% was also assessed for each one of the mutations V37I and Delta (GJB6-D13S1830), found in the study. These results are concordant with previous studies reported in the literature, conducted in several populations [22][23][24][25][26] . The relative contribution of the 35delG mutation to the non-syndromic hearing loss in these populations varied from 0% (Oman, Korea, Japan) to 70% (Italy, Spain, Greece), demonstrating the genetic heterogeneity among the different countries, even though some of these …”

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

“…22 Many studies from various parts of the world have documented the incidence of GJB2 mutations in the deaf population. These include France, 19 the United States, 23 Israel, 24 and, most recently, Lebanon, 25 Greece, 26 Austria, 27 China, 28 Brazil, 29 and the Iranian 30 and Palestinian populations. 31 Updates covering all the connexin26 mutations are provided by the Connexin-Deafness Homepage (http:// www.crg.es/deafness/).…”

The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region

“…Amplified polymerase chain reaction (PCR) products sequenced by DNA sequence analysis in a genetic analyzer device (SeqFinder Sequencing System; ABI 3130; Foster City, CA, USA). Data were analyzed using the SeqScape software in accordance with the literature [1,16] .…”

“…Hearing loss, whether congenital or acquired during childhood, affects the education of individuals and leads to challenges when communicating with other individuals in the social environment. Hearing loss is seen in every 1000 live births because of genetic conditions (50%-60%), infection, trauma, and premature birth [1,2] . However, these rates in our country differ, and they are 76.8% for genetic reasons and 23.2% for environmental reasons [3] .…”