Figure 1.
Variants identified in 321 patients with VWD type 2. Eighty-two unique variants, including 8 novel variants, were found. A vast majority (78%) of identified variants were missense substitutions, although other types, such as gene conversions (12%), synonymous variants (1%), splice variants (4%), and deletions (5%), were also observed. Nevertheless, in dominant VWD types (2A, 2B, and 2M), all variants identified always led to the synthesis of mutated VWF. Most patients were heterozygotes for a single variant (n = 259; 81%), whereas 37 patients (11%) had 2 variants: 4 (1%) were homozygotes, and 9 (3%) were in trans and 24 (7%) in cis position. Twenty-five patients (8%) had ≥3 variants, mainly as a result of gene conversion. #Six distinct gene conversions in type 2B NY were determined, and p.Pro1266Leu was the core variant.