CTC1 Mutations in a patient with dyskeratosis congenita. | Read by QxMD (original) (raw)
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Rachel B Keller, Katelyn E Gagne, G Naheed Usmani, George K Asdourian, David A Williams, Inga Hofmann, Suneet Agarwal
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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