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CTC1 Mutations in a patient with dyskeratosis congenita

Authors

  • Rachel B. Keller BS,

    1. Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston; Department of Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, Massachusetts
    2. Harvard Stem Cell Institute, Boston, Massachusetts
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  • Katelyn E. Gagne BS,

    1. Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston; Department of Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, Massachusetts
    2. Harvard Stem Cell Institute, Boston, Massachusetts
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  • G. Naheed Usmani MD,

    1. Division of Pediatric Hematology/Oncology, University of Massachusetts Medical School, Worcester, Massachusetts
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  • George K. Asdourian MD,

    1. Department of Ophthalmology, UMass Memorial Medical Center, Worcester, Massachusetts
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  • David A. Williams MD,

    1. Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston; Department of Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, Massachusetts
    2. Harvard Stem Cell Institute, Boston, Massachusetts
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  • Inga Hofmann MD, PhD,

    1. Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston; Department of Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, Massachusetts
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  • Suneet Agarwal MD, PhD

    Corresponding author
    1. Division of Hematology/Oncology, Stem Cell Program, Children's Hospital Boston; Department of Pediatric Oncology, Dana-Farber Cancer Institute; Harvard Medical School, Boston, Massachusetts
    2. Harvard Stem Cell Institute, Boston, Massachusetts
    • Children's Hospital Boston, CLS3002, 3 Blackfan Circle, Boston, MA 02115.
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  • Conflicts of interest: Nothing to declare.

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. Pediatr Blood Cancer 2012;59:311–314. © 2012 Wiley Periodicals, Inc.

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