Fig. 3

Sanger DNA sequencing chromatogram of probands and their parents. A novel variant DNAAF2, c.177_178insA (p.E60fs*3) was identified in the probands, their father had a heterozygous variant at the same location, whereas their mother did not. Another variant DNAAF2, c.156 C > A (p.Y52*,786) was also identified in both probands, their mother had a heterozygous variant at the same location, whereas their father did not