Dyskeratosis congenita (OMIM: #127550, #30500, #615190, #613987, #613989) is a telomeropathy characterized by the clinically classic triad of nail dystrophies, oral leukoplakia and pigmentary abnormalities in the upper thoracic aperture and cervical region. There is an increased risk of progressive bone marrow failure and the development of myeloid neoplasms, solid tumors, and pulmonary fibrosis. The clinical picture is variable, and the classic triad is often absent.<\/p>\n<\/div>
Synonyms:<\/p>\n<\/div><\/div><\/div>
DC, telomere syndromes, Zinsser-Cole-Engman syndrome<\/p>\n<\/div><\/div><\/div><\/div>
Genes:<\/p>\n<\/div><\/div><\/div>
ACD, CTC1, DKC1, NHP2, NOP10, PARN, RTEL1, TERC, TERT, TINF2, WRAP53<\/i> (30% of cases with clinical DC are currently not yet genetically classified)<\/p>\n<\/div><\/div><\/div><\/div> Gene \u00adproducts:<\/p>\n<\/div><\/div><\/div> All gene products play a role in telomere biology. TERC<\/i> codes for an RNA.<\/p>\n<\/div><\/div><\/div><\/div> Function:<\/p>\n<\/div><\/div><\/div> Stability and preservation of telomeres, which in turn are essential for chromosomal stability<\/p>\n<\/div><\/div><\/div><\/div> Pattern of inheritance:<\/p>\n<\/div><\/div><\/div> Prevalence:<\/p>\n<\/div><\/div><\/div> at least 400 families worldwide in 2015<\/p>\n<\/div><\/div><\/div><\/div> Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div> Extensive studies are lacking. Severe progressions (shorter telomeres than classic DC):<\/p>\n Penetrance:<\/p>\n<\/div><\/div><\/div> Not yet well understood. There is high inter-individual and intra-family variability and with age-dependent symptom onset, apparent incomplete penetrance. This is a phenomenon of anticipation.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>\n
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