Figure 3

Compound heterozygous mutations in the MYH7B gene segregate with the hearing loss in Family 1. a. MYH7B protein showing functional domains and locations of missense mutations in the paternal and maternal alleles. b. Segregation of heterozygous missense mutations in the MYH7B gene in Family 1. c. Description and population frequencies of rare paternal and maternal alleles of MYH7B. d. Verification of compound heterozygous mutations in proband F1.3 by Sanger sequencing. These data are representative of those of the other family members.