Figure 2.

The BHLHA9 mutation, protein structures, and conservation analysis of BHLHA9. (a) Genomic DNA sequencing electropherograms of the affected individual (upper), unaffected carrier (the middle), and control individual (lower). (b) Protein structures of BHLHA9. (*—amino-acid change reported by Malik et al.⁴ in MSSD and ^#—amino-acid change reported by Phadke et al.⁸ in Complex Camptosynpolydactyly), and the amino-acid change associated with the present family is shown using a red color in the diagram (**p.Ile104Thr). (c) The amino acids mutated in the affected individuals are conserved in different species. MSSD, mesoaxial synostotic syndactyly with phalangeal reduction.