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Fig. 1 | Journal of Translational Medicine

Fig. 1

From: A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy

Fig. 1

Pedigree and hearing of the family with AN are shown (A and B). # Indicates members selected for exome sequencing. The onset of deafness is shown for each patient. XKR8 in red indicates heterozygotes. Note that IV-4 (9 years old) had normal hearing at the time of analysis. Characteristic hearing data (from IV-5) is shown, with impaired speech perception scores (56% and 53% in the left and right ears, respectively) and normal OAE. Exome sequencing identified a novel variant in XKR8 (C), which is highly conserved (D).  The protein structure of XKR8 [13] is shown (E)

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