Table 1.
Overview of all PTPRQ mutations identified to date.
Fig 1.
A. Pedigree of family 1572 with ARNSHL. Affected subjects are denoted in black. Arrow indicates the proband, B. Audiogram of affected subjects shows bilateral profound hearing loss ranging from severe to profound from subjects II:1 and II:2 (red, right ear; blue, left ear). C. Conservation analysis. Protein alignment shows conservation of residues TMC1 D1042 and E1994 across nine species. These two mutations occur at an evolutionarily conserved amino acid (red). D. Electropherogram analysis of PTPRQ in family 1572 shows that compound heterozygous mutations (c.3125 A>G and c.5981 A>G) co-segregate with the phenotype.
Fig 2.
Molecular modeling of wild-type and mutant PTPRQ.
A. D1042 lies within a loop between two strands. The wild-type protein has a longer side chain than the mutant protein. B. The mutant protein G1994 has a shorter side chain than the wild-type protein and is predicted to lose two hydrogen bonds (created by SWISS-MODEL and shown with PY-MOL).