A Novel Homozygous Missense ADAMTS13 Mutation Y658C in a Patient with Recurrent Thrombotic Thrombocytopenic Purpura

• Published in: Annals of clinical and laboratory science Vol. 41; no. 3; pp. 273 - 276
• Main Authors: SEON HO LEE, JAE HOO PARK, PARK, Sang-Kyu, LEE, Eun-Hee, JUNG IN CHOI, VISENTIN, Gian Paolo, TAE SUNG PARK, SEUNG HWAN OH, KIM, Sung-Ryul
• Format: Journal Article
• Language: English
• Published: Philadelphia, PA Institute for Clinical Science 01.06.2011
• Subjects: ADAM Proteins - genetics; ADAMTS13 Protein; Adult; Anemias. Hemoglobinopathies; Base Sequence; Biological and medical sciences; Diseases of red blood cells; Female; Hematologic and hematopoietic diseases; Heterozygote; Homozygote; Humans; Infant, Newborn; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Molecular Sequence Data; Mutation, Missense; Platelet diseases and coagulopathies; Pregnancy; Purpura, Thrombotic Thrombocytopenic - genetics; Purpura, Thrombotic Thrombocytopenic - pathology; Recurrence; Reference Values; Skin disease; Relapse; Cardiovascular disease; Metalloendopeptidases; Hemopathy; Homozygosity; Thrombohemolytic microangiopathy; Vascular disease; Thrombotic thrombocytopenic purpura; Hemolytic anemia; Missense mutation; ADAMTS13; Clinical biology; Female; Human; Nervous system diseases; Urinary system disease; Enzyme; Vascular disorders of the skin; Recurrent; Pregnancy; Peptidases; Platelet; Hydrolases; Capillary vessel disease; Coagulopathy
• ISSN: 0091-7370; 1550-8080

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.