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Pediatr Blood Cancer. 2014 Dec;61(12):2302-4. doi: 10.1002/pbc.25161. Epub 2014 Jul 25.

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

Author information

1
Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky.

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.

KEYWORDS:

bone marrow failure; dyskeratosis congenita; retinopathy; telomerase

PMID:
25067791
PMCID:
PMC4205177
DOI:
10.1002/pbc.25161
[Indexed for MEDLINE]
Free PMC Article

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