CTC1 Mutations in a patient with dyskeratosis congenita.
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ABSTRACT:
SUBMITTER: Keller RB
PROVIDER: S-EPMC3374040 | biostudies-literature | 2012 Aug
REPOSITORIES: biostudies-literature
Publications
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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