title: Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.
abstract: Dyskeratosis congenita (DC) is a genetically heterogeneous syndrome characterized by reticular skin pigmentation, nail dystrophy, mucosal leukoplakia, short telomeres, and a predisposition to bone marrow failure and malignancy. Patients carrying mutations in TERT show a wide clinical spectrum of abnormalities, including classical DC, isolated bone marrow failure and lung fibrosis. Here, we report the clinical description and biological analysis of a patient with compound heterozygosity for two new missense mutations in TERT (V96L and V119L). Both mutations segregate with a short telomere phenotype, though only V96L segregates with clinical signs of DC.
authors.affiliation: Department of Medical Sciences, University of Eastern Piedmont, Novara, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Aspesi
authors.forename: Stefano
authors.initials: S
authors.lastname: Vallero
authors.forename: Alberto
authors.initials: A
authors.lastname: Rocci
authors.forename: Elisa
authors.initials: E
authors.lastname: Pavesi
authors.forename: Marina
authors.initials: M
authors.lastname: Lanciotti
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.forename: Irma
authors.initials: I
authors.lastname: Dianzani
mesh_terms: D000741:Anemia, Aplastic / Q000235:genetics*; D002648:Child; D019871:Dyskeratosis Congenita / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D017422:Sequence Analysis, DNA; D019098:Telomerase / Q000235:genetics*; D016615:Telomere / Q000473:pathology
chemical_list: C509186:TERT protein, human; D019098:Telomerase