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.
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.
Authors: Evelyn Lilly; Christopher G Bunick; Alexander M Maley; Shali Zhang; Mary K Spraker; Amy J Theos; Karina L Vivar; Lucia Seminario-Vidal; Adam E Bennett; Robert Sidbury; Yasushi Ogawa; Masashi Akiyama; Barbara Binder; Smail Hadj-Rabia; Raffaella A Morotti; Earl J Glusac; Keith A Choate; Gabriele Richard; Leonard M Milstone Journal: J Am Acad Dermatol Date: 2018-10-02 Impact factor: 11.527