case_images: PMC3559089_01
case_images: Sequence chromatography. A: The heterozygous change, c.788T>G, was identified in affected family members. B: Unaffected members and 50 healthy controls are wild-type at this position.
case_images: mv-v19-196-f4.jpg
case_images: PMC3559089_01_mv-v19-196-f4.jpg
case_images: f4
case_images: T>G in exon 5, at position 788 of the translation start site was detected in all affected patients (Figure 4A). This position belongs to helix 3 of the homeodomain in the PAX3 protein, and converts the 45th amino acid in this domain from valine to glycine. This mutation was not found in the other unaffected relatives (II:1, III:2, IV:1, and IV:2) in the healthy controls (Figure 4B).