[Mutation of Gap junction protein beta 2 gene and treatment outcome of cochlear implantation in cochlear implantation recipients].
OBJECTIVE
To investigate the Gap junction protein beta 2 (GJB2) gene mutation in cochlear implantation (CI) recipients and the treatment outcome of CI in the CI recipients with GJB2 gene mutation.


METHODS
Peripheral blood samples were collected from 253 CI recipients with autosomal recessive non-syndromic hearing impairment (NSHI), 174 males and 79 females, aged (8 +/- 9) (112 months-52.7 years), and 301 children with normal hearing level as controls. PCR was used to detect the GJB2 mutations. The auditory threshold with CI and speech recognition of the CI recipients with GJB2 mutation were compared with those of the CI recipients without GJB2 mutation (control group). Questionnaire survey, with meaningful auditory integration scale (MAIS), categories of auditory performance (CAP), and speech intelligibility rating (SIR), was used for young infants.


RESULTS
Sixty-seven of the 253 CI recipients (26.5%) were found to have GJB2 mutations. One novel mutation, GJB2 235delC/598G > A, was identified. The detection rates of GJB2 mutations in the CI recipients were significantly higher than those among the controls (all P < 0.05). The postoperative outcomes of CI in both the GJB2 gene mutation positive and negative groups were very good, however, without significant differences among these 2 groups (all P > 0.05).


CONCLUSIONS
GJB2 gene mutation is one of the major causes for CI recipients with autosomal recessive NSHI. The treatment outcomes of CI recipients with GJB2 gene mutations under 7 years old are satisfying.
Liu
Jun
J
Department of Otolaryngology Head & Neck Surgery, Otorhinolaryngological Institute, Genetic Testing Center for Deafness, General Hospital of Chinese People's Liberation Army, Beijing 100853, China.
Yu
Fei
F
Dai
Pu
P
Han
Dong-Yi
DY
Yang
Shi-Ming
SM
Wang
Guo-Jian
GJ
Hong
Meng-di
MD
Kang
Dong-Yang
DY
Zhang
Xin
X
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D019929:Cochlear Implantation; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000601:surgery; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016896:Treatment Outcome; D055815:Young Adult
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26