Figure 1. Pedigrees of families A and B and sequence electropherograms. A: Segregation of the identified mutation in family A. B: Segregation of the identified mutation in family B. C: Sequence electropherograms of an affected individual (upper panel), a heterozygous mutation carrier (middle panel), and a homozygous wild-type healthy individual (lower panel) of family A. D: Sequence electropherograms of an affected person (upper panel), a heterozygous mutation carrier (middle panel), and a homozygous wild-type healthy individual (lower panel) of family B. In family pedigrees, roman numerals indicate generation number, arrows indicate probands, M stands for mutation identified, + is wild-type allele, M/M indicates genotypes of affected individuals, +/M indicates genotypes of unaffected individuals carrying a mutant allele, and +/+ indicates genotypes of healthy individuals.