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.