CTC1 Mutations in a patient with dyskeratosis congenita

被引：100

作者：

Keller, Rachel B. ^{[1
,2
,3
,4
]}

Gagne, Katelyn E. ^{[1
,2
,3
,4
]}

Usmani, G. Naheed ^{[5
]}

Asdourian, George K. ^{[6
]}

Williams, David A. ^{[1
,2
,3
,4
]}

Hofmann, Inga ^{[1
,2
,3
]}

Agarwal, Suneet ^{[1
,2
,3
,4
]}

机构：

[1] Childrens Hosp, Div Hematol Oncol, Stem Cell Program, Boston, MA 02115 USA

[2] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Boston, MA USA

[4] Harvard Stem Cell Inst, Boston, MA USA

[5] Univ Massachusetts, Sch Med, Div Pediat Hematol Oncol, Worcester, MA USA

[6] UMass Mem Med Ctr, Dept Ophthalmol, Worcester, MA USA

来源：

PEDIATRIC BLOOD & CANCER | 2012年 / 59卷 / 02期

关键词：

aplastic anemia; bone marrow failure; molecular genetics; non-malignant hematology; telomerase; MAINTENANCE COMPONENT 1; TELOMERE MAINTENANCE; COATS PLUS; COMPLEX; DISEASE; FIBROBLASTS; LENGTH;

D O I：

10.1002/pbc.24193

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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.

引用

页码：311 / 314

页数：4

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