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

Abstract

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.

Revertant mosaicism repairs skin lesions in a patient with keratitis-ichthyosis-deafness syndrome by second-site mutations in connexin 26

“…Five novel missense SMs were found to be independently present in cis with the disease-causing mutation GJB2 c.148G > A, p.Asp50Asn. Three of the five mutations, p.Gly21Arg ( 24 ), p.Asp46Asn ( 25 ) and p.Ser138Asn ( 26 ) have previously been reported in hearing loss. The mutations p.Asp46Ala and p.Ala148Asp, have not been reported previously, however, two other mutations, p.Asp46Asn and p.Asp46Glu, have been described in the same codon as p.Asp46.…”

Investigação genética da surdez hereditária: mutação do gene da Conexina 26

“…Identificar as mutações possíveis do gene da Conexina 26 pode ajudar a entender o relacionamento entre este gene e o fenótipo da surdez (37) . Estudo descreveu uma nova mutação autossômica dominante do gene GJB2, a mutação G21R, identificada em cinco indivíduos de três gerações de uma família cubana, que apresentavam perda auditiva neurossensorial congênita não-sindrômica de grau profundo (37) .…”

Design and application of methods for curating genetic variation databases

“…c.209C>T p.P70L (Putcha et al, 2007) c.488T>C p.M163T (Putcha et al, 2007) c.278T>C p.M93T (Putcha et al, 2007) c.557C>A p.T186K (Putcha et al, 2007) c.563A>G p.K188R (Putcha et al, 2007) c.161A>G p.N54S (Putcha et al, 2007) c.172C>G p.P58A (Primignani et al, 2007) c.314A>G p.K105R (de Oliveira et al, 2007) c.160A>C p.N54H (Bazazzadegan et al, 2011) c.61G>A p.G21R (Rabionet et al, 2006) c.188T>C p.V63A (Tang et al, 2006) c.40A>G p.N14D (Haack et al, 2006) c.107T>C p.L36P (Propst, Papsin, et al, 2006) c.380G>T p.R127L (Tang et al, 2006) c.475G>T p.D159Y (Propst, Stockley, et al, 2006) c.257C>T p.T86M (Tang et al, 2006) c.40A>T p.N14Y (Mhaske et al, 2013) c.102G>A p.M34I (Snoeckx et al, 2005) c.154G>C p.V52L (Snoeckx et al, 2005) c.299A>C p.H100P (Snoeckx et al, 2005) c.394C>G p.L132V (Snoeckx et al, 2005) c.622A>C p.T208P (Snoeckx et al, 2005) c.452T>G p.M151R (Snoeckx et al, 2005) c.419T>G p.I140S (Snoeckx et al, 2005) c.413G>A p.S138N (Snoeckx et al, 2005) c.389G>T p.G130V (Iossa et al, 2009) c.175G>C p.G59R (Leonard et al, 2005) c.164C>A p. T55N (Tekin et al, 2005) c.617A>C p. N206T (Wattanasirichaigoon et al, 2004) c.119C>T p.A40V (Mhaske et al, 2013) c.331A>G p.I111V (Azaiez et al, 2004) c.506G>A p.C169Y (Azaiez et al, 2004) (Azaiez et al, 2004) c.42C>G p.N14K (Lazic et al, 2008) c.176G>T p.G59V (Palmada et al, 2006) c.50C>A p.S17Y…”