TABLE 2.
Phenotypic and genotypic data of the 44 type 3 index cases
| Study ID | Age/Gender | FVIII | VWF:Ag | ABO | ISTH BS | Pos/Neg BS | VWF Variant 1 | VWF Variant 2 |
|---|---|---|---|---|---|---|---|---|
| ZA0026 | 34/F | 4 | <1 | O | 15 | + | p. Glu2015* | c.7730−2del |
| ZA0216 | 58/F | 7 | <1 | A | 31 | + | c.221−977_532+7059del | NSV |
| ZA0267 | 23/F | 4 | <1 | A | 24 | + | p. Arg1566* | c.1730−10C>A |
| ZB0016 | 47/F | 3 | <1 | A | 21 | + | p. Gln2543* | p. Pro812Argfs*31 |
| ZE0005 | 8/F | 3 | <1 | B | 5 | + | p. Arg373* | C.3675−1G>A |
| ZF0017 | 21/M | 8 | <1 | O | 15 | + | p. Gln1982Alafs*9 | c.2282−809_2442+2811delinsT |
| ZF0092 | 4/M | 6 | <1 | O | 6 | + | p. Cys851Tyr | NSV |
| ZF0145 | 21/F | a | a | B | 28 | + | p. Tyr301Cys | p. Tyr301Cys |
| ZF0164 | 16/F | a | a | A | 11 | + | p. Phe165Val | p. Lys1116* |
| ZF0171 | 8/F | 2 | <1 | NA | 4 | + | c.6798+1G>A | C.6798+1G>A |
| ZG0002 | 18/F | 2 | <1 | A | 9 | + | c.6901+14C>T (homozygous) | c.7730−2del (homozygous) |
| ZI0002 | 61/F | a | a | A | 28 | + | c.5621−2A>C | p. Arg2535* |
| ZI0003 | 45/F | a | a | O | 24 | + | c,875−3C>A | p. Cys295Tyr |
| ZJ0005 | 11/M | 3 | <1 | O | 18 | + | c.7770+1G>A | C.7770+1G>A |
| ZL0020 | 48/M | 8 | <1 | O | 10 | + | p. Cys331* | c.324−14_324−4delinsAAGTTCAGAGTCT |
| ZL0079 | 20/M | 4 | <1 | O | 21 | + | p. Pro691Glnfs*50 | c.2282−809_2442+2811delinsT |
| ZL0146 | 1/F | 0 | <1 | O | 6 | + | p. Arg575Thrfs*16 | p. Val1546* |
| ZM0034 | 24/M | NA | <1 | A | 22 | + | p. Met814Hisfs*5 | c.324−14_324−4delinsAAGTTCAGAGTCT |
| ZM0209 | 44/F | 6 | <1 | A | 29 | + | p. Met814lle | p. Tyr2483* |
| ZM0242 | 47/M | 7 | <1 | A | 18 | + | c.3108+5G>A | c.3108+5G>A |
| ZM0393 | 41/F | NA | <1 | A | 24 | + | p. Met814Hisfs*5 | p. Arg1566* |
| ZM0499 | 12/M | 3 | <1 | O | 15 | + | p. Pro2808Leufs*24 | NSV |
| ZM0515 | 2/M | 4 | <1 | NA | 10 | + | p. Pro812Argfs*31 | C.6598+1G>A |
| ZM0852 | 24/M | 2 | <1 | B | 11 | + | c.324−10 324−9insCAGAGT | p. Arg2535* |
| ZN0043 | 11/F | 3 | <1 | NA | 13 | + | p. Arg34* | p. Asp896Tyr |
| ZN0087 | 25/F | 9 | <1 | O | 29 | + | p. Leu757Valfs*22 | NSV |
| ZN0088 | 40/F | 5 | <1 | O | 16 | + | p. Arg575Thrfs*16 | c.221−977_532+7059del |
| ZN0101 | 38/M | 6 | <1 | O | 16 | + | p. Cys689* | p. Pro812Argfs*31 |
| ZN0646 | 17/F | 2 | <1 | B | NA | NA | p. Leu451Argfs’19 | p. Arg1659* |
| Z00056 | 14/F | 4 | <1 | NA | 19 | + | p. Ser1731Valfs*12 | p. Arg1853* |
| Z00068 | 18/M | NA | <1 | O | 9 | + | p.Gln224* | p. Arg1659* |
| ZPOOOl | 1/M | 8 | <1 | AB | 8 | + | p. Gly1828Val | c.7730−3C>G |
| ZQ0004 | 27/F | 3 | <1 | B | 6 | + | p. Leu970Serfs*9 | p. Leu970Serfs*9 |
| ZROOOl | O/M | 2 | <1 | NA | 4 | + | c.6256+2dup | p. Trp1144Gly |
| ZR0008 | 34/F | 5 | <1 | O | 10 | + | p. Cys665Alafs*3 | p. Gln1113* |
| ZS0020 | 5/F | a | a | NA | 11 | + | p. Met814Hisfs*5 | p. Arg1659* |
| ZTOOOl | 40/M | 4 | <1 | O | 24 | + | p. Arg1853* | p. Gln1311* |
| ZU0021 | 35/M | 8 | <1 | O | 23 | + | p. Arg2535* | p. Arg2535* |
| ZU0081 | 24/M | 2 | <1 | A | 18 | + | c.221−977_532+7059del | c.−30029_220+3487del |
| ZU0092 | 5/M | NA | <1 | NA | 8 | + | p. Met814Hisfs*5 | c.5843−2754_6799~1517del |
| ZV0007 | 15/M | a | a | O | 13 | + | p. Arg2218Glyfs*7 | p. Cys2739Arg |
| ZW0012 | 7/M | a | a | O | 13 | + | C.3675−1G>A | NSV |
| ZX0008 | 46/M | a | a | O | 15 | + | p. Cys2425Trpfs*50 | NSV |
| ZY0006 | 5/M | 3 | <1 | O | 20 | + | p. Ala634Pro | p. Met1710Glufs*31 |
Note: FVIII activity (FVIII), VWF antigen (VWF:Ag), and blood type (ABO) were measured centrally at time of enrollment. VWF ristocetin cofactor activity (VWF:RCo) was <10 in all untreated individuals.
ISTH BS, ISTH BAT bleeding score.
Positive (pos, +) or Negative (Neg) bleeding score determined by age and gender cutoffs.15
First sequence variant (VWF Variant 1) and second variant (VWF Variant 2) identified in each subject are listed, or NSV for no causative sequence variant found in VWF.
Abbreviations: F, Female; M, Male; NA, lab values not available.
a
Treated sample.