Dyskeratosis congenita.
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. The encoded protein, dyskerin, is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Mutations in DKC1 mainly lead to amino acid substitutions. The autosomal dominant form of the disease is due to mutations in hTR, the RNA component of telomerase, making it likely that the disease is due to defective telomerase activity. Mutations in hTR are predicted to either disrupt secondary structure or alter the template region. The gene or genes involved in the recessive forms of the disease remain elusive, though genes whose products are required for telomere maintenance are strong candidates.
Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College School of Science, Technology and Medicine, Hammersmith Hospital, Du Cane Road, London, W12 0NN, United Kingdom. a.marrone@ic.ac.uk
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D000818:Animals; D018797:Cell Cycle Proteins / Q000235:genetics; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D051379:Mice; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D019098:Telomerase / Q000235:genetics / Q000378:metabolism
D018797:Cell Cycle Proteins; C112148:DKC1 protein, human; D009687:Nuclear Proteins; D019098:Telomerase