Table 1

Stratification by multimer pattern and mutation status, linkage, and type of mutation

Multimer pattern19 Mutation identifiednVWFpp,U/dLVWFpp/VWF:AgFVIII:C/VWF:AgVWF:RCo/VWF:Ag
IC + AFM Normal No 113 92 (81-108) 1.6 (1.3-1.9) 1.4 (1.1-1.7) 1.1 (0.9-1.2) 
Yes 134 81 (64-101) 2.0 (1.5-2.4) 1.7 (1.2-2.3)* 1.0 (0.9-1.2) 
Abnormal Yes 150 79 (65-100) 4.3 (2.9-7.0) 1.8 (1.2-2.5) 0.6 (0.3-0.9)† 
UFM Normal No 255 111 (98-128) 1.2 (1.0-1.5) 1.2 (0.9-1.4) 1.0 (0.8-1.2) 
Yes 31 115 (97-132) 1.4 (1.1-1.8) 1.3 (1.1-1.7) 0.9 (0.8-1.2) 
Linkage of mutation‡        
 Cosegregation   174 78 (65-99) 3.3 (2.0-5.4) 1.9 (1.3-2.6)§ 0.8 (0.4-1.1) 
 No cosegregation   57 80 (63-103) 2.4 (1.6-4.0) 1.6 (1.0-2.0) 1.0 (0.6-1.2)║ 
 P cosegregation vs no cosegregation  0.786 0.048 0.003 0.11 
Type of mutation        
 Missense mutations   228 89 (73-109) 2.8 (1.8-5.3) 1.6 (1.1-2.1) 0.8 (0.5-1.1) 
 “Null” mutations#   20 72 (63-85) 2.0 (1.7-2.4) 2.4 (2.0-2.8) 1.1 (1.0-1.3) 
 HC   387 118 (104-136) 1.2 (1.0-1.5) 1.1 (1.0-1.3)** 1.1 (0.9-1.3) 
 P missense vs null    0.001 0.007 <0.001 0.001 
Multimer pattern19 Mutation identifiednVWFpp,U/dLVWFpp/VWF:AgFVIII:C/VWF:AgVWF:RCo/VWF:Ag
IC + AFM Normal No 113 92 (81-108) 1.6 (1.3-1.9) 1.4 (1.1-1.7) 1.1 (0.9-1.2) 
Yes 134 81 (64-101) 2.0 (1.5-2.4) 1.7 (1.2-2.3)* 1.0 (0.9-1.2) 
Abnormal Yes 150 79 (65-100) 4.3 (2.9-7.0) 1.8 (1.2-2.5) 0.6 (0.3-0.9)† 
UFM Normal No 255 111 (98-128) 1.2 (1.0-1.5) 1.2 (0.9-1.4) 1.0 (0.8-1.2) 
Yes 31 115 (97-132) 1.4 (1.1-1.8) 1.3 (1.1-1.7) 0.9 (0.8-1.2) 
Linkage of mutation‡        
 Cosegregation   174 78 (65-99) 3.3 (2.0-5.4) 1.9 (1.3-2.6)§ 0.8 (0.4-1.1) 
 No cosegregation   57 80 (63-103) 2.4 (1.6-4.0) 1.6 (1.0-2.0) 1.0 (0.6-1.2)║ 
 P cosegregation vs no cosegregation  0.786 0.048 0.003 0.11 
Type of mutation        
 Missense mutations   228 89 (73-109) 2.8 (1.8-5.3) 1.6 (1.1-2.1) 0.8 (0.5-1.1) 
 “Null” mutations#   20 72 (63-85) 2.0 (1.7-2.4) 2.4 (2.0-2.8) 1.1 (1.0-1.3) 
 HC   387 118 (104-136) 1.2 (1.0-1.5) 1.1 (1.0-1.3)** 1.1 (0.9-1.3) 
 P missense vs null    0.001 0.007 <0.001 0.001 

Results are indicated as median (25th to 75th percentile).

*

n = 133.

†

n = 149.

‡

Linkage was defined as complete cosegregation (pedigrees with no phenocopies and fully penetrant) or incomplete cosegregation (pedigrees with either phenocopies or nonpenetrance).14 

§

n = 173.

║

n = 56.

n = 227.

#

Comprise premature stop codons caused by nonsense mutations, frame shifts (small deletions and insertions), and out-of-frame splice site mutations.

**

n = 385.

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