Identification of a novel mutation in DKC1 in dyskeratosis congenita
Pediatric Blood & Cancer2008Vol. 52(1), pp. 135–137
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М. А. Kurnikova, Irina A. Shagina, Lilia Khachatryan, O. A. Schagina, Michael Maschan, Dmitry A. Shagin
Abstract
Dyskeratosis congenita (DC) is a rare congenital syndrome characterized by the triad of reticular skin pigmentation, nail dystrophy and mucosal leukoplakia, and the predisposition to bone marrow failure and malignancy. DC is genetically heterogeneous and X-linked and autosomal forms of the disease exist. Here, we report the clinical description and mutation analysis of a Russian family with X-linked DC. A novel mutation in DKC1 raised de novo in the maternal grandmother's gamete was found; this mutation is a 2 bp inversion in exon 3: NM_001363:c.166_167invCT (Leu56Ser).
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