Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation.

ABSTRACT

OBJECTIVE: Keratitis-ichthyosis-deafness syndrome (KID) is a rare congenital disorder. Mutations in the GJB2 gene have recently been identified as the causative mutations of KID. AIM: To define the GJB2 mutation in a Chinese patient with KID and brain malformation. METHODS: Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis. RESULTS: We identified a heterozygous missense mutation (D50N) in the GJB2 gene in this patient. CONCLUSIONS: These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2.