Figure 3
From: Further evidence for “gain-of-function” mechanism of DFNA5 related hearing loss
The sporadic case with the DFNA5 frameshift variation c.116_119delAAAA. (A) Pedigree of the sporadic case. Arrow represents the proband. Symbols with red frame indicate members whose samples were used for targeted exome sequencing. (B) Audiogram of the I:1. Symbols “o” and “x” denote air conduction pure-tone thresholds at different frequencies in the right and left ear. dB, decibels; Hz, Hertz. (C) Audiogram of the II:1, the proband’s father, who was 38 years old when testing. (D) DNA sequence chromatograms showing the deletion variation c.116_119delAAAA both in the affected proband and his father, while his mother (II:2) had wild type.
