Figure 2. Sequences of three novel
mutations identified in this study. A: c.78+1G>T was found
in case 4. B: c.227T>G (p.V76G) was found in case 6. C:
c.78+5G>A was found in case 8. The upper and lower panels reveal the
RS1 sequences of three probands and mothers, respectively. All
three patients inherited the novel variants from their mothers.
Positions of novel variants are indicated by arrows.