CTC1 Mutations in a patient with dyskeratosis congenita

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 genotypephenotype complexity observed in telomere-related genetic disorders. Pediatr Blood Cancer 2012;59:311314. (c) 2012 Wiley Periodicals, Inc.