title: Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA.
abstract: Aplastic anaemia in adults is usually acquired, but rarely constitutional types of bone marrow failure can occur late in life. We assessed two families with onset of pancytopenia in adults and detected two novel point mutations in the telomerase RNA gene (TERC) in each family. This gene is abnormal in some kindreds with dyskeratosis congenita. Individuals in our families with mutated TERC did not have physical signs of dyskeratosis congenita, and their blood counts were nearly normal, but all had severely shortened telomeres, reduced haemopoietic function, and raised serum erythropoietin and thrombopoietin. Bone marrow failure of variable severity due to dyskeratosis congenita, historically characterised by associated physical anomalies and early pancytopenia, may be present in otherwise phenotypically normal adults, and can masquerade as acquired aplastic anaemia.
authors: Hematology Branch, National Heart, Lung, and Blood Institute, 10 Center Drive, MSC 1652, Bethesda, MD 20892-1652, USA.
authors: Patrick F
authors: PF
authors: Fogarty
authors: Hiroki
authors: H
authors: Yamaguchi
authors: Adrian
authors: A
authors: Wiestner
authors: Gabriela M
authors: GM
authors: Baerlocher
authors: Elaine
authors: E
authors: Sloand
authors: Weihua S
authors: WS
authors: Zeng
authors: Elizabeth J
authors: EJ
authors: Read
authors: Peter M
authors: PM
authors: Lansdorp
authors: Neal S
authors: NS
authors: Young
mesh_terms: D000328:Adult; D000741:Anemia, Aplastic / Q000209:etiology*; D019871:Dyskeratosis Congenita / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006412:Hematopoietic Stem Cells / Q000648:ultrastructure; D006801:Humans; D008297:Male; D008875:Middle Aged; D010198:Pancytopenia / Q000209:etiology; D010375:Pedigree; D017354:Point Mutation; D012313:RNA / Q000235:genetics*; D019098:Telomerase / Q000235:genetics*
chemical_list: C422952:telomerase RNA; D012313:RNA; D019098:Telomerase