Figure 5 Sanger DNA sequencing chromatogram of probands and their parents. A novel mutation DNAAF2, c.177_178insA (p.E60Rfs*3) was identified in the probands, their father had a heterozygous mutation at the
same location, whereas their mother did not. Another mutation DNAAF2, c.156C>A (p.Y52*,786) was also identified in both of the probands, their mother had a heterozygous mutation at the same location, whereas their father did not.