High prevalence of the connexin 26 (GJB2) mutation in Chinese cochlear implant recipients.
BACKGROUND
The GJB2 gene, mapping to chromosome 13q12, encodes a gap junction protein, connexin 26, and is responsible for certain forms of congenital deafness, such as DFNB1 and DFNA3. Mutations of this gene are responsible for about one half of severe autosomal recessive non-syndromic deafness.


METHODS
To determine whether GJB2 mutations are major causes of deafness in Chinese cochlear implant recipients, we enrolled 115 cochlear implant recipients for mutation screening.


RESULTS
The results showed that 36.5% (42/115) of all cochlear implant recipients and 41% (41/100) of non-syndromic deafness patients exhibit GJB2 mutations; only 1 inner ear malformation patient was detected with GJB2 mutations. The present study found 11 different variations in the GJB2 gene.


CONCLUSIONS
The 235delC mutation was the most prevalent mutation, found in 18.3% (42/230 alleles) of all cochlear implant recipients and 21.0% (42/200 alleles) of the non-syndromic deafness group. Only 0.6% of GJB2 mutations were detected in the inner ear malformation group. The novel 187G-->T mutations are likely to be pathological mutations.
Chen
Dongye
D
Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing, China.
Chen
Xiaowei
X
Cao
Keli
K
Zuo
Jin
J
Jin
Xin
X
Wei
Caogang
C
Fang
Fude
F
D000328:Adult; D044466:Asian People / Q000235:genetics* / Q000706:statistics & numerical data*; D002648:Child; D002681:China / Q000453:epidemiology; D003054:Cochlear Implants / Q000706:statistics & numerical data*; D018389:Codon, Nonsense; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000208:ethnology / Q000235:genetics / Q000601:surgery; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D005838:Genotype; D006801:Humans; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D015995:Prevalence
D018389:Codon, Nonsense; D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26