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Table 1 Pathogenic mutations in the ADAMTS13 gene in patients with Upshaw–Schulman syndrome

From: An ADAMTS13 mutation that causes hereditary thrombotic thrombocytopenic purpura: a case report and literature review

Patient no Ethnicity Site of mutation (exon no.) Nucleotide change Amino acid change Mutation type Clinical manifestation References
1 Turkish exon 3 c.291_319del29 p. Glu98Profs Frameshift Chronic recurrent TTP [16]
exon 29 c.4143dupA p. Glu1382Argfs Frameshift
2 Iranian exon 23 c.2931_2936delGTGCCC p. Cys977_Arg979delinsTrp Frameshift Not available [16]
3 American exon 17 c.2074C > T p. Arg692Cys Missense Had a chronic relapsing course, responded to plasma infusion [17]
4 American exon 3 c.286C > G p. His96Asp Missense Had a chronic relapsing course, responded to plasma infusion [17]
5 American exon 22 c.2851T > G p. Cys951Gly Missense Had a chronic relapsing course, responded to plasma infusion [17]
6 American exon 13 c.1582A > G p. Arg528Gly Missense Had a chronic relapsing course, responded to plasma infusion [17]
7 American exon 27 c.3770dupT p. Leu1258Valfs Frameshift Had a chronic relapsing course, responded to plasma infusion [17]
8 American exon 10 c.1193G > A p. Arg398His Missense Had a chronic relapsing course, responded to plasma infusion [17]
9 American exon 24 c.3070T > G p. Cys1024Gly Missense Had a chronic relapsing course, responded to plasma infusion [17]
10 American exon 3 c.304C > T p. Arg102Cys Missense Microangiopathic haemolysis, clinical response to plasma infusion [17]
11 American exon 6 c.587C > T p. Thr196Ile Missense Microangiopathic haemolysis, clinical response to plasma infusion [17]
12 American exon 19 c.2376_2401del26 p. Ala793Profs Frameshift Microangiopathic haemolysis, clinical response to plasma infusion [17]
13 American exon 26 c.3638G > A p. Cys1213Tyr Missense Microangiopathic haemolysis, clinical response to plasma infusion [17]
14 American _ c.1584 + 5G > A _ Splice site Microangiopathic haemolysis, clinical response to plasma infusion [17]
15 Japanese intron 3 c.331-1G > A _ Splice site Kidney failure and plastocytopenia [18]
exon 7 c.749C > T p. Ala250Val Missense
16 Japanese intron 4 c.414 + 1G > A _ Splice site Plastocytopenia and hemolyticanemia (the patient's parents are cousins) [19]
17 Japanese exon 7 c.803G > C p. Arg268Pro Missense Neonatal onset and frequent relapses [20]
exon 12.13 c.[1342C > G;1523G > A] p. Gln448Glu
p. Cys508Tyr
Missense (haplotype)
18 Japanese exon 12 c.1345C > T p. Gln449Ter Nonsense Neonatal onset and frequent relapses [20]
19 American exon 15 c.1783_1784delTT p. Leu595Glyfs Frameshift Plastocytopenia and microvascular hemolysis [21]
20 Haitian exon 16 c.1787C > T p. Ala596Val Missense Neonatal hemolysis and thrombocytopenia,chronic hemolysis, proteinuria and biliary stones [22]
21 Chinese exon 6 c.581G > T p. Gly194Val Missense Hemolytic anemia, thrombocytopenia,ecchymosis, petechiae, decreased liver function, jaundice and fever Department of Hematology,303rd Hospital of the People's Liberation Army (Aug 15, 2018)
exon 18 c.2209T > C p. Cys737Arg Missense
22 Not available exon 23 c.2863dup p. Trp955fs Frameshift Not available Mendelics (May 28, 2019)
23 Not available _ c.3044 + 1G > A _ Splice site Not available GeneDx (Jan 29, 2019)
24 Chinese exon 11 c.1335delC p. Phe445LeufsTer52 Frameshift Plastocytopenia, neurological abnormalities and renal involvement; Had a chronic relapsing course, chronic hemolysis responded to plasma infusion This study
exon 18 c.2130C > G p. Cys710Trp Missense