Figure 4. Pedigrees and electropherograms of families 1–4. The dark symbols in the pedigrees represent affected individuals. The electropherograms show bi-directional sequencing of the homozygous c.1143_1144 insC mutation in family 1 (A), compound heterozygous c.201 G>A and c. 491_492 insT mutations in family 2 (B), homozygous c.492 delC mutation in family 3 (C), and heterozygous c.1622_1625 delTCTG mutation in family 4 (D). The heterozygous c.492 delC mutation in family 4 is not shown.