Figure 3. Sequence analysis of WNT10B gene showing a novel nonsense variant (c.460C > G, p.Gln154*) in affected individuals in family A and B. The upper panel (a) represents nucleotide sequences in an affected individual, the middle panel (b) in a heterozygous carrier and lower panel (c) in a normal individual; arrows indicate position of the sequence variant. (d) 7-bp duplication mutation (c.300_306dupAGGGCGG; L103Rfs*53) in the gene WNT10B found in affected individuals in family C and D, (e) in the heterozygous carrier, and (f) in an unaffected member of the family. Underline 7-bp sequence AGGGCGG is duplicated in affected members; arrows indicate position of duplication. (g, h) Leucine (L) amino acid represented in green is conserved across four different species. (i) Comparison of amino acid sequence of normal and mutated human WNT10B protein showing nonsense mutation (p.Gln154*) identified in family A and B. (j) Amino acid sequence comparison of normal and mutated human WNT10B protein showing substitution of leucine with arginine at amino acid position 103 and frame shift (Leu103Argfs*53). Comparison of amino acid sequence of human WNT10B protein with other orthologs.