title: Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterized by the triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. X-linked recessive inheritances are recognized in approximately 40% of the patients. DKC1 has been identified as the gene responsible for X-linked DC, and genetic analyses have been performed in a worldwide study. Here, we performed genetic analysis of five Japanese patients with presumed X-linked DC, and identified four mutations in the DKC1 gene, including two novel missense mutations (Q31K and T357A). Such genetic analysis is useful for the definite diagnosis and genetic counselling of patients.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Toyama Medical and Pharmaceutical University, Toyama 930-0194, Japan. kanegane@ms.toyama-mpu.ac.jp
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Kasahara
authors.forename: Jun
authors.initials: J
authors.lastname: Okamura
authors.forename: Teruaki
authors.initials: T
authors.lastname: Hongo
authors.forename: Rieko
authors.initials: R
authors.lastname: Tanaka
authors.forename: Keiko
authors.initials: K
authors.lastname: Nomura
authors.forename: Seiji
authors.initials: S
authors.lastname: Kojima
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis; D001483:Base Sequence; D016026:Bone Marrow Transplantation; D018797:Cell Cycle Proteins / Q000235:genetics*; D002648:Child; D003937:Diagnosis, Differential; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins