title: Identification of a novel mutation in DKC1 in dyskeratosis congenita.
abstract: Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser).
authors.affiliation: Evrogen Joint Stock Company, Moscow, Russia. kurnikova@evrogen.ru
authors.forename: Maria
authors.initials: M
authors.lastname: Kurnikova
authors.forename: Irina
authors.initials: I
authors.lastname: Shagina
authors.forename: Lilia
authors.initials: L
authors.lastname: Khachatryan
authors.forename: Olga
authors.initials: O
authors.lastname: Schagina
authors.forename: Mikchail
authors.initials: M
authors.lastname: Maschan
authors.forename: Dmitriy
authors.initials: D
authors.lastname: Shagin
mesh_terms: D000293:Adolescent; D018797:Cell Cycle Proteins / Q000235:genetics*; D019871:Dyskeratosis Congenita / Q000235:genetics*; D005192:Family Health; D006801:Humans; D008297:Male; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D012426:Russia
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins