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.