Figure 2.

WISP3 mutations in the patients with progressive pseudorheumatoid dysplasia. (a) Family of patient 1. Patient 1 was a compound heterozygote of the mutationsc.396T>G [p.(C132W)]and c.721T>G [p.(C241G)]. Mother of patient 1 was confirmed to have one mutation (c.396T>G of WISP), whereas father and brother of patient 1 were confirmed to have the other mutation (c.721T>G of WISP). This suggested that the two mutations in patient 1 were compound. Neither of the two mutations was present in the 50 controls. (b) Family of patient 2. Patient 2 was a homozygote of the mutation c.679dup [p.(C227Lfs*21)]. The frameshift mutation of the carrier parents needs to be read in theelectropherogram on both the forward and reverse sides. (c) Amino acid alignments in different species around the missense mutation. p.C132and p.C241 are highly evolutionarily conserved.