The mutation of GJB2 gene in keratitis-ichthyosis-deafness syndrome
- VernacularTitle:角膜炎、鱼鳞病、耳聋综合征的GJB2基因突变研究
- Author:
Xibao ZHANG
;
Shengcai WEI
;
Yanfang WANG
;
Changxing LI
;
Xiao XU
;
Ji LI
;
Yuqing HE
;
Quan LUO
- Publication Type:Journal Article
- Keywords:
Keartitis, ichthyosis and deafness syndrome;
GJB2;
Mutation
- From:
Chinese Journal of Dermatology
1995;0(03):-
- CountryChina
- Language:Chinese
-
Abstract:
Objective To detect the mutations of GJB2 and GJB6 genes in the first Chinese case of keratitis, ichthyosis and deafness (KID) syndrome. Methods Genomic DNA was extracted from the patient with KID syndrome and his family members. All encoding exons and adjacent splice sites of the GJB2 and GJB6 genes were amplified by PCR. Mutation scanning was carried out by direct bidirectional DNA sequencing. Results No mutation was found in GJB6. A G148A mutation was found at exon2 of GJB2 in the patient, which caused a change from aspartic acid to asparagine at codon 50(D50N). Conclusion This case of KID syndrome may be caused by the mutation in GJB2.
