The mutation of GJB2 gene in keratitis-ichthyosis-deafness syndrome / 中华皮肤科杂志

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.