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