Figure 1. Inheritance of MYO7A p.Q1896X, p.K923AfsX8, and p.E1349K mutations in families of patients 1 and 2

A: Pedigree of patient 1 showing inheritance of the mutations. B: Restriction digested samples of the family of patient 1. PCR products from exon 41 were digested with BstF5I for p.Q1896X detection and from exon 23 with SacI for p.K923AfsX8 detection. The mutations are visible in the upper 220 bp and 550 bp bands. C: Upper row: sequences from patient 1 heterozygous for the mutations. Lower row: healthy control sequences. D: Pedigree of patient 2 showing segregation of the mutations. E: Upper row: sequences from patient 2 heterozygous for the mutations. Lower row: healthy control sequences.