publication . Article . Other literature type . 1999

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight, S.W.; Heiss, N.S.; Vulliamy, T.J.; Greschner, S.; Stavrides, G.; Pai, G.S.; Lestringant, G.; Varma, N.; Mason, P.J.; Dokal, I.; ...
Open Access English
  • Published: 01 Jul 1999 Journal: The American Journal of Human Genetics, volume 65, issue 1, pages 50-58 (issn: 0002-9297, Copyright policy)
  • Publisher: Elsevier BV
Abstract
Dyskeratosis congenita is a rare inherited bone marrow-failure syndrome characterized by abnormal skin pigmentation, nail dystrophy, and mucosal leukoplakia. More than 80% of patients develop bone-marrow failure, and this is the major cause of premature death. The X-linked form of the disease (MIM 305000) has been shown to be caused by mutations in the DKC1 gene. The gene encodes a 514-amino-acid protein, dyskerin, that is homologous to Saccharomyces cerevisiae Cbf5p and rat Nap57 proteins. By analogy to the homologues in other species, dyskerin is predicted to be a nucleolar protein with a role in both the biogenesis of ribosomes and, in particular, the pseudou...
Subjects
free text keywords: Genetics(clinical), Genetics, Research Article
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publication . Article . Other literature type . 1999

X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

Knight, S.W.; Heiss, N.S.; Vulliamy, T.J.; Greschner, S.; Stavrides, G.; Pai, G.S.; Lestringant, G.; Varma, N.; Mason, P.J.; Dokal, I.; ...