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CTC1 Mutations in a patient with dyskeratosis congenita.

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.

SUBMITTER: Keller RB 

PROVIDER: S-EPMC3374040 | biostudies-literature | 2012 Aug

REPOSITORIES: biostudies-literature

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CTC1 Mutations in a patient with dyskeratosis congenita.

Keller Rachel B RB   Gagne Katelyn E KE   Usmani G Naheed GN   Asdourian George K GK   Williams David A DA   Hofmann Inga I   Agarwal Suneet S  

Pediatric blood & cancer 20120424 2

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  ...[more]

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