title: Congenital thrombotic thrombocytopenic purpura with novel mutations in three unrelated Turkish children.
abstract: Congenital thrombotic thrombocytopenic purpura (TTP) is an inherited disease caused by mutations in the ADAMTS 13 gene and has been reported to have diverse ages of presentation, ranging from the newborn period to adulthood. Herein, we present three cases of congenital TTP who were symptomatic during childhood (neonatal period, 7 and 10 years) and were each initially given different diagnoses. Congenital TTP was later diagnosed by molecular analysis and responsiveness to fresh frozen plasma. Three novel mutations in a homozygous state were identified in these patients: c.1308G>C, c.428T>C (p.Ile143Thr) and c.1709A>G (p.Tyr570Cys).
authors.affiliation: Division of Pediatric Immunology and Allergy, Ankara Children's Hematology Oncology Training and Research Hospital, Ministry of Health, Ankara, Turkey.
authors.forename: Ayse
authors.initials: A
authors.lastname: Metin
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Fatma
authors.initials: F
authors.lastname: Gümrük
authors.forename: Roberta
authors.initials: R
authors.lastname: Palla
authors.forename: Andrea
authors.initials: A
authors.lastname: Cairo
authors.forename: Mary
authors.initials: M
authors.lastname: Underwood
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071120:ADAMTS13 Protein; D000293:Adolescent; D002648:Child; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D011697:Purpura, Thrombotic Thrombocytopenic / Q000151:congenital*
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
keywords: ADAMTS13 deficiency; ADAMTS13 mutation; Upshaw-Schulman syndrome; c.1308G>C; c.1709A>G mutations; c.428T>C; congenital TTP; thrombotic thrombocytopenic purpura