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

• Published in: Clinical and experimental dermatology Vol. 34; no. 3; pp. 309 - 313
• Main Authors: Zhang, X.-B., Wei, S.-C., Li, C.-X., Xu, X., He, Y.-Q., Luo, Q., Li, J., Wang, Y.-F.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.2009; Wiley-Blackwell
• Subjects: Adolescent; Biological and medical sciences; Complex syndromes; Connexin 26; Connexins - genetics; Dandy-Walker Syndrome - genetics; Dandy-Walker Syndrome - pathology; Dermatology; DNA Mutational Analysis - methods; Dyskeratosis; Female; Hearing Loss, Sensorineural - genetics; Humans; Ichthyosiform Erythroderma, Congenital - genetics; Keratitis - genetics; Magnetic Resonance Imaging; Malformations of the nervous system; Medical genetics; Medical sciences; Mutation, Missense - genetics; Neurology; Pedigree; Syndrome; Asia; China; Human; Dyskeratosis; Skin disease; Nervous system diseases; Dermatology; Auditory disorder; Congenital disease; Cerebral disorder; Brain malformation; Eye disease; Central nervous system disease; ENT disease; Mutation; Complex syndrome; KID syndrome
• ISSN: 0307-6938; 1365-2230
• DOI: 10.1111/j.1365-2230.2008.02934.x

Summary 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.