Figure 2.

Top, Family pedigrees. Phenotypes are indicated within each symbol, and genotypes and results of thyroid function tests appear below each of the family members studied. Abnormal values are in bold numbers. Roman numbers indicate family generation, and Arabic numbers indicate studied family members. Bottom, Haplotypes. Carriers of c.279delT share a common haplotype not observed in noncarrier members, suggesting a founder effect. In family B, the novel mutation c.416–1G→A was found in the propositus’ maternal grandfather, mother, father, and two paternal siblings. c.416–1G→A carrier and noncarrier members of family B share a common haplotype not present in family A.