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.