[High prevalence of connexin-26 (GJB2) mutation in cochlear implant recipients].
OBJECTIVE
To determine the prevalence of GJB2 gene mutations in patients undergoing cochlear implantation.


METHODS
We enrolled 115 cochlear implant recipients for mutation screening. Genomic DNA was extracted from the blood of all patients, amplified in PCR and analyzed for single strand conformation polymorphism (SSCP) or direct sequencing to detect mutations of GJB2 gene.


RESULTS
The result shows that the GJB2 mutations are detected in 36.5% (42/115) of the cochlear implant recipients, and especially 41% (41/100) of the non-syndromic deafness patients, only 1 inner ear malformation patient was detected with GJB2 mutations. This study found 11 different variations in the GJB2 gene. The 235delC mutation was the most prevalent mutation accounting for 18.3% (41/230) in all cochlear implant recipients and 21% (42/200) in non-syndromic deafness group. 187G > T and 230G > A mutations were novel mutation of GJB2 gene in the Chinese population.


CONCLUSIONS
Mutations in the GJB2 gene were a major cause of deafness in cochlear implant recipients, the carrier frequency of 235delC mutation was highest.
Chen
Dong-ye
DY
Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Science, Beijing 100730, China.
Chen
Xiao-wei
XW
Cao
Ke-li
KL
Jin
Xin
X
Zuo
Jin
J
Wei
Chao-gang
CG
Fang
Fu-de
FD
D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D003054:Cochlear Implants; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D004252:DNA Mutational Analysis; D003638:Deafness / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D015995:Prevalence
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26