CTC1 Mutations in a patient with dyskeratosis congenita

Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
Pediatric Blood & Cancer (Impact Factor: 2.56). 08/2012; 59(2):311-4. DOI: 10.1002/pbc.24193
Source: PubMed

ABSTRACT 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.

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Available from: Rachel Beth Keller, Feb 04, 2015
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