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Fig. 1 | Journal of Translational Medicine

Fig. 1

From: First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

Fig. 1

Identification of a heterozygous c.6881G>A PTPRQ pathogenic variant in a 5-generation ADNSHL family. a Family pedigree showing a typical autosomal dominant mode of inheritance and cosegregation of the PTPRQ variant with HL. The proband is marked with an arrow. Affected individuals are indicated by black symbols, unaffected individuals are indicated by open symbols, diagonal line denotes deceased family members. b, c Pure tone audiometry of selected family members at a similar age between 7 and 12 y/o (b) and 27–32 y/o (c) showing varying degrees of hearing loss. “O” symbols denote a mean binaural values of air conduction thresholds. d Clinical exome sequencing results visualized with the Integrative Genomic Viewer software illustrating the presence of a heterozygous guanine to adenine transition (c.6881G>A) (green letters) localized within exon 45. of the PTPRQ gene and resulting in a premature stop codon (p.Trp2294*). e The corresponding electropherogram from Sanger sequencing

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