Identification of 605ins46, a novel GJB2 mutation in a Japanese family.
Connexin 26 gene (GJB2) mutations are known to be responsible for a significant portion (30-80%) of autosomal recessive congenital severe to profound deafness. More than 60 recessive mutations in GJB2 have been reported and most consist of point mutations of a nucleotide. We report here a novel insertional GJB2 mutation consisting of a long repetitive nucleotide sequence. As compound heterozygotes of this mutation with 235delC express sensorineural hearing loss of variable severity, further analysis of the phenotype-genotype relationship is required.
Yuge
Isamu
I
Department of Otorhinolaryngology, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan.
Ohtsuka
Akihiro
A
Matsunaga
Tatsuo
T
Usami
Shin-ichi
S
D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012720:Severity of Illness Index
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26