2003/04/01 by Shinichi Yotsumoto, T. Hashiguchi, X. Chen +8 · 86 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · Medicine · #Connexins and lens biology #Hearing, Cochlea, Tinnitus, Genetics #Intraocular Surgery and Lenses #Missense mutation #Genetics #Ichthyosis #Ichthyosis vulgaris #Mutation #Gene #Connexin #Germline mutation #Biology #genomic DNA #Gene mutation #Germline #Medicine #Filaggrin #Immunology
paper · doi:10.1046/j.1365-2133.2003.05245.x
published in British Journal of Dermatology 148(4), 649-653 (Oxford University Press)
openalex publication_date 2003/04/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/30
BACKGROUND: Germline missense mutations in the GJB2 gene that encodes connexin-26 (Cx26) have recently been found to be the cause of the keratitis-ichthyosis-deafness (KID) syndrome. OBJECTIVES: To define the GJB2 mutations in three Japanese patients with KID syndrome. 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 and DNA-based diagnosis. RESULTS: We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome. All mutations were located on the first extracellular domain of Cx26. CONCLUSIONS: These data expand the GJB2 mutation database and show that a dominant mutation of Cx26 can cause KID syndrome in Japanese patients.