期刊
PEDIATRIC BLOOD & CANCER
卷 59, 期 2, 页码 311-314出版社
WILEY-BLACKWELL
DOI: 10.1002/pbc.24193
关键词
aplastic anemia; bone marrow failure; molecular genetics; non-malignant hematology; telomerase
资金
- NIH [K08HL089150, 5RC1DK086861]
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 genotypephenotype complexity observed in telomere-related genetic disorders. Pediatr Blood Cancer 2012;59:311314. (c) 2012 Wiley Periodicals, Inc.
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