Table 2 Genetic analysis of ADAMTS13... | American Society of Hematology

Table 2

Genetic analysis of ADAMTS13 gene in 10 patients (9 families) with USS

Patient no.	ADAMTS13 mutations				ADAMTS13* polymorphisms
Patient no.	Intron/exon	Variant	Status	Protein	ADAMTS13* polymorphisms
8	Exon 7	c.706G > T	Homozygous	p.Gly236Cys	c.1342C > G p.Gln448Glu
22	Exon 8	c.825–10_843del29	Heterozygous	p. ?	c.1342C > G p.Gln448Glu
	Exon 19	c.2272T > C	Heterozygous	p.Cys758Arg
5	Exon 3	c.283G > C	Heterozygous	p.Ala95Pro	c.19C > T p.Arg7Trp
	Exon 16	c.1892C > T	Heterozygous	p.Ala631Val	c.3097G > A p.Ala1033Thr
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp
21†	Exon 20	c.2434G > T	Heterozygous	p.Glu812X	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.3097G > A p.Ala1033Thr
32†	Exon 20	c.2434G > T	Heterozygous	p.Glu812X	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.3097G > A p.Ala1033Thr
28	Exon 3	c.262G > C	Heterozygous	p.Val88Leu	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2699 C > T p.Ala900Val
					c.3097G > A p.Ala1033Thr
16	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
	Exon 25	c.3313C > T	Heterozygous	p.Gln1105X	c.3097G > A p.Ala1033Thr
35	Exon 20	c.2455delG	Heterozygous	p.Ala819LeufsX24	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.3097G > A p.Ala1033Thr
24	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
					c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2195C > T p.Ala732Val
					c.3097G > A p.Ala1033Thr
30	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
					c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2195C > T p.Ala732Val
					c.3097G > A p.Ala1033Thr

Patient no.	ADAMTS13 mutations				ADAMTS13* polymorphisms
Patient no.	Intron/exon	Variant	Status	Protein	ADAMTS13* polymorphisms
8	Exon 7	c.706G > T	Homozygous	p.Gly236Cys	c.1342C > G p.Gln448Glu
22	Exon 8	c.825–10_843del29	Heterozygous	p. ?	c.1342C > G p.Gln448Glu
	Exon 19	c.2272T > C	Heterozygous	p.Cys758Arg
5	Exon 3	c.283G > C	Heterozygous	p.Ala95Pro	c.19C > T p.Arg7Trp
	Exon 16	c.1892C > T	Heterozygous	p.Ala631Val	c.3097G > A p.Ala1033Thr
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp
21†	Exon 20	c.2434G > T	Heterozygous	p.Glu812X	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.3097G > A p.Ala1033Thr
32†	Exon 20	c.2434G > T	Heterozygous	p.Glu812X	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.3097G > A p.Ala1033Thr
28	Exon 3	c.262G > C	Heterozygous	p.Val88Leu	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2699 C > T p.Ala900Val
					c.3097G > A p.Ala1033Thr
16	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
	Exon 25	c.3313C > T	Heterozygous	p.Gln1105X	c.3097G > A p.Ala1033Thr
35	Exon 20	c.2455delG	Heterozygous	p.Ala819LeufsX24	c.19C > T p.Arg7Trp
	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.3097G > A p.Ala1033Thr
24	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
					c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2195C > T p.Ala732Val
					c.3097G > A p.Ala1033Thr
30	Exon 24	c.3178C > T	Heterozygous	p.Arg1060Trp	c.19C > T p.Arg7Trp
					c.1342C > G p.Gln448Glu
					c.1852C > G p.Pro618Ala
					c.2195C > T p.Ala732Val
					c.3097G > A p.Ala1033Thr

In all patients, polymorphisms were found with a heterozygous status except in patient 22 whose single-nucleotide polymorphism was homozygous.

†

Patients 21 and 32 are sisters.

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