Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation

Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have been shown as a major contributor to prelingual, non-syndromic, autosomal recessive deafness in Caucasian popul ations. One specific mutation, 35delG, has accounted for the majority of th e mutations detected in the GJB2 gene and is one of the most frequent disea se mutations identified to date. We have previously reported a carrier freq uency of 35delG of 3.5% in the Greek population, and the 35delG mutation ha s been detected in one-third of the alleles in Greek patients with sensorin eural, prelingual, non-syndromic deafness. The description of this common m utation has opened the way to prenatal diagnosis of prelingual deafness, an d we here describe our experience with 29 couples requesting counseling, ca rrier testing and prenatal diagnosis of DFNBI deafness. Copyright (C) 2001 John Wiley & Sons.