Figure 3.

The direct sequencing of MYO7A, USH1C, and PCDH15 detected a total of three distinct novel pathogenic mutations: one frameshift mutation, two nonsense mutations, and one previously reported splicing defect-causing mutation. The known variant was a nucleotide substitution (c.470+1G>A), and the frameshift mutation is caused by nucleotide deletion c.1845delG causing USH1B. The molecular screening of USH1C and PCDH15 revealed two novel nonsense mutations occurring at the homozygous state: p.Arg3X in USH1C and p.Arg134X in PCDH15.