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Pediatr Blood Cancer. 2012 Aug;59(2):311-4. doi: 10.1002/pbc.24193. Epub 2012 Apr 24.

CTC1 Mutations in a patient with dyskeratosis congenita.

Author information

1
Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston, Boston, Massachusetts 02115, USA.

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.

PMID:
22532422
PMCID:
PMC3374040
DOI:
10.1002/pbc.24193
[Indexed for MEDLINE]
Free PMC Article

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