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. 2018 Nov 9;8:16659. doi: 10.1038/s41598-018-34876-9

Figure 1.

Figure 1

KCNQ4 mutations identified by whole-exome sequencing, and pedigrees and audiological phenotypes of YUHL35 and YUHL41 families. (a) Evolutionary conservation of altered amino acid residues of KCNQ4. (b,c) Computational tertiary structure prediction of KCNQ4 wild-type and p.Asp266Tyr proteins. Asp266 shared a hydrogen bond with Lys289 (K), whereas p.Asp266Tyr had hydrogen bonds with Asp272, Ser273, and Lys289 (L). Moreover, Lys289 clashed with the p.Asp266Tyr mutation. YUHL, Yonsei University hearing loss. (d) The family pedigree of YUHL35 with autosomal dominant hearing loss. KCNQ4 genotypes of individuals in whom Sanger sequencing was performed are indicated. (e–g) The pure-tone audiogram showed moderate sensorineural hearing loss bilaterally in II-6 (f). Note that the 8-year-old male only had mid-frequency hearing loss up to 60 dB HL (g). (h) An autosomal dominant inheritance pattern was observed in the YUHL41 pedigree. KCNQ4 genotypes of individuals in whom Sanger sequencing was performed are indicated. (i–l) Affected individuals II-2 (i) and III-2 (l) had residual hearing function at 250 and 500 Hz, whereas hearing loss at high frequencies was observed in pure-tone audiograms.