Figure 2. Electropherograms of the three families. The sequencing results show three different mutations. A: A c.1801–1G>A splice mutation was detected in family 1. B: A c.1130 T>A (Leu377Ter) mutation and a synonymous variation: c.1125 T>C were found in family 2. C: A c.612 del AG (p.Glu204GlufsX18) mutation was detected in family 3. All the carriers were heterozygous.