Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
OBJECTIVE
To determine the mutation spectrum of the connexin 26 gene among 324 Taiwanese patients with prelingual deafness and the carrier rate of gene mutation in another 432 unrelated control subjects.


METHODS
The coding region of the connexin 26 gene was sequenced in both directions to detect mutation in all 756 samples.


RESULTS
Among the 756 samples tested, 21 connexin 26 variants were detected, including 7 novel ones. The 235delC mutation was the most common, accounting for 57.6% of the mutant alleles. Among patients, 48 (14.8%) had connexin 26 gene mutations. In the control group, the carrier rate of connexin 26 mutation was estimated at 2.8%.


CONCLUSIONS
The mutation spectrum of the connexin 26 gene is wide, with more than half of the patients having only one mutation detected. Thus, further efforts are needed to look for possible existence of a second mutant allele.
Hwa
Hsiao-Lin
HL
Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, Taiwan.
Ko
Tsang-Ming
TM
Hsu
Chuan-Jen
CJ
Huang
Chien-Hao
CH
Chiang
Yu-Ling
YL
Oong
Jene-Lien
JL
Chen
Chun-Chen
CC
Hsu
Chia-Kai
CK
D000483:Alleles; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D011110:Polymorphism, Genetic; D013624:Taiwan / Q000453:epidemiology
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26