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Pediatr Blood Cancer. 2009 Jan;52(1):135-7. doi: 10.1002/pbc.21733.

Identification of a novel mutation in DKC1 in dyskeratosis congenita.

Author information

1
Evrogen Joint Stock Company, Moscow, Russia. kurnikova@evrogen.ru

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).

PMID:
18802941
DOI:
10.1002/pbc.21733
[Indexed for MEDLINE]

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