CTC1 Mutations in a patient with dyskeratosis congenita

UMMS Affiliation

Department of Pediatrics; Department of Ophthalmology



Document Type


Medical Subject Headings

Dyskeratosis Congenita; Telomere-Binding Proteins; Mutation


Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Hemic and Lymphatic Diseases | Pediatrics


Dyskeratosis congenita (DC) is a rare inherited bone marrow failure syndrome caused by mutations in seven genes involved in telomere biology, with approximately 50% of cases remaining genetically uncharacterized. We report a patient with classic DC carrying a compound heterozygous mutation in the CTC1 (conserved telomere maintenance component 1) gene, which has recently implicated in the pleiotropic syndrome Coats plus. This report confirms a molecular link between DC and Coats plus and expands the genotype-phenotype complexity observed in telomere-related genetic disorders. Pediatr Blood Cancer 2012;59:311-314. (c) 2012 Wiley Periodicals, Inc.

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Citation: Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24. Link to article on publisher's site

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Link to Article in PubMed

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