title: Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy.
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.
authors: Department of Pediatrics, University of Kentucky College of Medicine, Lexington, Kentucky.
authors: Akshay
authors: A
authors: Sharma
authors: Kasiani
authors: K
authors: Myers
authors: Zhan
authors: Z
authors: Ye
authors: John
authors: J
authors: D'Orazio
mesh_terms: D000328:Adult; D002648:Child; D019871:Dyskeratosis Congenita / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D010198:Pancytopenia / Q000150:complications* / Q000235:genetics; D017354:Point Mutation / Q000235:genetics*; D011379:Prognosis; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics; D035781:Siblings; D019098:Telomerase / Q000235:genetics*
chemical_list: C509186:TERT protein, human; D019098:Telomerase
keywords: bone marrow failure; dyskeratosis congenita; retinopathy; telomerase