Dyskeratosis Congenita, X-linked (DKC1)
Dyskeratosis congenita (DC), X-linked is caused by pathogenic variants in the gene DKC1. This disorder is characterized by dysplastic nails, changes in skin pigmentation, and the formation of plaques on the mucous membranes of the mouth. Individuals are at high risk for developing bone marrow failure and cancer, which contributes to decreased life expectancy. Males may have testicular atrophy. Life expectancy is variable depending on the severity of the disease, but may range from death in infancy to late adulthood. Hoyeraal-Hreidarsson syndrome (HHS) is a more severe variant of this disorder characterized by early onset, multisystem involvement and death in childhood. No clear genotype-phenotype correlation has been established.
For information about carrier frequency and residual risk, please see the residual risk table.