2002 Volume 16 Issue 2 Pages 78-83
Dyskeratosis congenita (DC) is a rare inherited disease that is clinically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and mucosal leucoplakia. Approximately 80% of the patients is associated with progressive bone marrow failure, and X-linked recessive inheritances are recognized in about 90%.In 1998, DKC1 was reported to be a causative gene for X-linked DC, and the DKC1 genetic analyses have been available. In the present study, we investigated DKC1 genes in the 4 patients with presumed X-linked DC and identified 3 missense mutations, such as Q31K, A353V, and T357A. A few DC patients may show aplastic anemia without skin manifestations. The genetic analysis is useful for the diagnosis of patients and carriers, as well as the differentiation of DC from acquired aplastic anemia.
