Table 2 Genetic analysis of three patients with likely constitutive ADAMTS-13 deficiency
Patient | ADAMTS-13 gene mutation | ADAMTS-13 gene polymorphism Protein (status) | ADAMTS-13 activity N >50 % | ||
|---|---|---|---|---|---|
Exon/Intron number | Mutation (Status) | Protein | Protein | Non acute phase (basal) | |
A | Exon 24 | c.3178C > T | p.Arg1060Trp | pArg7Trp (Htz) | 5 % |
(Htz) | heterozygous | pGln448Glu (Htz) | |||
pPro618Ala (Htz) | |||||
pAla732Val (Htz) | |||||
pAla1033Thr (Htz) | |||||
B | - | - | - | pArg7Trp (Hm) | 5-9 % |
pGln448Glu (Hm) | |||||
pPro618Ala (Hm) | |||||
pAla732Val (Hm) | |||||
C | Exon 6 | c.559G > C (Htz) | pAsp187His | - | <5 % |
Intron 8 | c.988-2A > C (Htz) | not described | |||