Mutation ofGJB2in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation

Abstract

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. To define the GJB2 mutation in a Chinese patient with KID and brain malformation. Genomic DNA was extracted from peripheral blood and used to amplify the GJB2 gene. Direct sequencing and endonuclease digestion were used for mutation analysis. We identified a heterozygous missense mutation (D50N) in the GJB2 gene in this patient. These results indicate that KID syndrome in this patient was caused by a dominant mutation of GJB2.