title: A novel homozygous missense ADAMTS13 mutation Y658C in a patient with recurrent thrombotic thrombocytopenic purpura.
abstract: Thrombotic thrombocytopenic purpura (TTP) is a devastating systemic disorder that is characterized by microangiopathic hemolytic anemia, thrombocytopenia, neurological dysfunction, and renal failure. In the hereditary form of TTP, severe deficiency of ADAMTS13, a plasma metalloprotease that cleaves von Willebrand factor, is associated with the development of this disorder. A 34-year-old woman was diagnosed with TTP due to severely reduced ADAMTS13 activity; clinical manifestations resolved only by repeated total plasma exchanges or transfusion. Homozygous and heterozygous Y658C (c.1973A>G) alleles were detected in the patient and her child with severe and mild ADAMTS13 deficiencies, respectively. Herein, we report a novel missense mutation Y658C (c.1973A>G) on exon 17 of ADAMTS13 and discuss its clinical implications.
authors.affiliation: Department of Laboratory Medicine, Ulsan University Hospital, University of Ulsan College of Medicine, Korea.
authors.forename: Seon Ho
authors.initials: SH
authors.lastname: Lee
authors.forename: Jae Hoo
authors.initials: JH
authors.lastname: Park
authors.forename: Sang-Kyu
authors.initials: SK
authors.lastname: Park
authors.forename: Eun-Hee
authors.initials: EH
authors.lastname: Lee
authors.forename: Jung In
authors.initials: JI
authors.lastname: Choi
authors.forename: Gian Paolo
authors.initials: GP
authors.lastname: Visentin
authors.forename: Tae Sung
authors.initials: TS
authors.lastname: Park
authors.forename: Seung Hwan
authors.initials: SH
authors.lastname: Oh
authors.forename: Sung-Ryul
authors.initials: SR
authors.lastname: Kim
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D000328:Adult; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D011247:Pregnancy; D011697:Purpura, Thrombotic Thrombocytopenic / Q000235:genetics* / Q000473:pathology; D012008:Recurrence; D012016:Reference Values
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human