Fig.1.

Genetic analysis of the ARNSHL proband. A. Pedigree of family B with ARNSHL, the proband is denoted in black. Partial sequences of B. PTPRQ, C. MYO1A in the proband showing that homozygous mutation (c.2599T>C) in PTPRQ and the heterozygous mutation (c.2804 T>C) in MYO1A, both co-segregating with the phenotype. Mutated nucleotides are marked with vertical lines (black). Protein alignment shows conservation of residue D. 867 in PTPRQ, and E.935 in MYO1A across seven and eight species respectively. These two novel mutations occur at evolutionarily conserved amino acid positions marked with vertical lines (black).