GJB2 (connexin 26) mutations and childhood deafness in Thailand.
OBJECTIVE
The purpose of this study was to elucidate whether GJB2 mutations are responsible for childhood deafness in Southeast Asia.


BACKGROUND
GJB2 mutations are responsible for a large part of childhood deafness in many countries. In Whites, there is a common mutation (35delG) that accounts for about 70 to 80% of the GJB2 mutations. Previously, we and others reported a common GJB2 mutation (235delC) in Japanese patients with prelingual deafness. The association of the 235delC mutation with a single haplotype suggested a founder effect of the mutation.


METHODS
We analyzed the GJB2 gene in 17 deaf patients from 12 unrelated families in Thailand. Genomic DNA was extracted from peripheral lymphocytes of each patient and the entire coding region of the GJB2 gene was sequenced.


RESULTS
GJB2 mutations were found in 4 patients in 3 families. Patient 1 was a homozygote of 235delC. Patient 2 was a compound heterozygote of 235delC and W24X (71G --> A). Patient 3A and 3B (in 1 family) were heterozygotes of a novel mutation M34L (100A --> T).


CONCLUSIONS
The 235delC mutation may be widely distributed in Asian countries outside of Japan.
Kudo
T
T
Department of Otorhinolaryngology-Head and Neck Surgery, Tohoku University School of Medicine, 1-1 Seiryomachi, Aobaku, Sendai 980-8574, Japan.
Ikeda
K
K
Oshima
T
T
Kure
S
S
Tammasaeng
M
M
Prasansuk
S
S
Matsubara
Y
Y
D002648:Child; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D011110:Polymorphism, Genetic; D013785:Thailand / Q000453:epidemiology
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26