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

Author

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., and Poustka, A.

Subjects
Genetic disorders -- Research, Epithelial cells -- Abnormalities, Bone marrow -- Genetic aspects, Biological sciences
Abstract

X-linked dyskeratosis congenita, a rare inherited bone-marrow failure syndrome in which 80%+ of the patients die, is in the main the result of DKC1 gene missense mutations. The X-linked form of the disease is known to be caused by mutations in DKC1, which encodes a 514-amino-acid protein homologous to a Saccharomyces cerevisiae protein and a rat protein. The DKC1 gene is made up of 15 exons and has been screened for mutation in genomic DNA. Mutations included 11 different single-nucleotide substitutions resulting in 10 missense mutations.

Published
1999

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