Figure 1.

Mutations identified in patients with nCHH. (A) Pedigrees of affected individuals. Arrows represent index cases, filled symbols represent affected individuals, open symbols represent unaffected individuals, squares denote men, circles denote women, oblique lines through symbols represent deceased individuals and double line represents consanguineous marriage. Genotypes for tested family members, when available, are presented below each individual. WT, wild-type allele. (B) DNA sequence analysis of normal individuals (above) and patients (below). The positions of the mutations are indicated by asterisks. In the case of the deletion (p.Phe313Metfs*3) (family 2 and 3), only the cloned mutated allele is represented (below) with the deleted sequence (above).