Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy

Akshay Sharma, Kasiani Myers, Zhan Ye, John D'Orazio

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Two siblings presenting with exudative retinopathy, thrombocytopenia, and macrocytosis were found to have markedly shortened telomeres and a previously unreported inherited mutation in TERT, c.2603A>G. Revesz syndrome, a subtype of dyskeratosis congenita (DC) caused by TINF2 mutation, combines marrow failure with exudative retinopathy, intracranial calcifications, and neurocognitive impairment. As our patients manifested neither intracranial calcification nor significant neurocognitive impairment, we conclude that the c.2603A>G TERT mutation may define a subtype of DC manifesting first as exudative retinopathy without other signs of DC. Children with exudative retinopathy should be periodically screened for macrocytosis and cytopenias to evaluate for underlying DC.

Original languageEnglish
Pages (from-to)2302-2304
Number of pages3
JournalPediatric Blood and Cancer
Volume61
Issue number12
DOIs
StatePublished - Dec 1 2014

Bibliographical note

Publisher Copyright:
© 2014 Wiley Periodicals, Inc.

Keywords

  • Bone marrow failure
  • Dyskeratosis congenita
  • Retinopathy
  • Telomerase

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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