A novel G21R mutation of the GJB2 gene causes autosomal dominant non-syndromic congenital deafness in a Cuban family

Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness have been described. Mutations in the GJB2 gene are the cause of an important number of cases of non-syndromic recessive deafness but are not as common in non-syndromic dominant deafness cases. We describe here a new dominant mutation (G21R) in the GJB2 gene which causes deafness and has been identified in a three generation Cuban family with dominant non-syndromic congenital sensorineural profound deafness.

Bibliographic Details

Main Authors:	Rabionet,Raquel, Morales-Peralta,Estela, López-Bigas,Núria, Arbonés,Maria Lourdes, Estivill,Xavier
Format:	Digital revista
Language:	English
Published:	Sociedade Brasileira de Genética 2006
Online Access:	http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572006000300006
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