[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss].
OBJECTIVE
To study the relation between nonsyndromic hearing loss in Chinese and mutations in connexin 26 (Cx 26) gene and to explore the pathogenic mechanism.


METHODS
One hundred and thirty-eight individuals from thirty-five pedigrees with nonsyndromic hearing loss, 99 children with sporadic nonsyndromic hearing loss and 100 normal adults as control were collected in present studies. The Cx 26 coding sequence was screened by single strand conformational polymorphism (SSCP) and analyzed by direct sequencing when SSCP shifts were observed.


RESULTS
Five SSCP shifts in 2 pedigrees were observed. Homozygous deletion C at position 233-235 of Cx 26 cDNA, which resulted in frameshift mutation, was found in 2 pedigrees with nonsyndromic hearing loss.


CONCLUSIONS
The hot-spot mutations of Cx 26 gene in Chinese with nonsyndromic hearing loss may be different from other ethnic groups. The 233-235 delC homozygous mutation of Cx 26 cDNA can result in autosomal recessive nonsyndromic hearing loss in Chinese population.
Ke
X
X
Department of Otorhinolaryngology, First Hospital of Peking University, Beijing 100034, China. chenkx@public.bta.net.cn
Lu
Y
Y
Liu
Y
Y
Pu
D
D
Zhu
P
P
Qi
Y
Y
Liu
X
X
D000328:Adult; D044466:Asian People; D002648:Child; D002681:China / Q000453:epidemiology; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree
D017630:Connexins; D000072259:Connexin 26