title: Missense mutation in a patient with X-linked dyskeratosis congenita.
abstract: We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine. This is the third description of a mutation in codon 350 (exon 11), changing a very well conserved amino acid in the pseudouridine synthase (PUA) domain of dyskerin.
authors.affiliation: Medizinische Poliklinik, Klinikstr. 8, 97070 Würzburg, Germany. kraemer_d@klinik.uni-wuerzburg.de
authors.forename: Doris M
authors.initials: DM
authors.lastname: Kraemer
authors.forename: Matthias
authors.initials: M
authors.lastname: Goebeler
mesh_terms: D000328:Adult; D018797:Cell Cycle Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D019871:Dyskeratosis Congenita / Q000235:genetics*; D040181:Genetic Diseases, X-Linked / Q000235:genetics; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009687:Nuclear Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins