Figure 1. JAG1 mutations segregate with CMT2 and vocal fold paresis in 2 unrelated families.

(A) Pedigree of family 1 demonstrating affected subjects in 3 generations (arrow indicates proband). The genotypes of individuals whose DNA was Sanger sequenced are shown. The parents of II.7 are deceased, but did not show any signs of peripheral neuropathy or vocal fold paresis. (B) Sanger sequencing of the JAG1 gene from unaffected (II.6 and II.8) and affected (II.7, III.5, III.7, IV.2) individuals from family 1, showing the heterozygous c.1731C>G variant (asterisks). (C) Haplotype analysis of family 1, with the CMT2-associated haplotype shown in green. (D) Pedigree of family 2 demonstrating affected subjects across 4 generations. Family members whose DNA was examined have been numbered. (E) Photographs of individual IV.2 (family 1) illustrating her tracheostomy, scoliosis repaired with surgeries, and mild pes cavus (clockwise from top left).