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. 2023 Apr 3;55(4):844–859. doi: 10.1038/s12276-023-00976-4

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© The Author(s) 2023

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Detection rate of KCNQ4 variants in the YUHL cohort. Variants were identified in 15 unrelated families among 373 families for which WES was performed (n = 15/373; 4.02%). Eight of 10 KCNQ4 variants identified in 9 families were included in this study. b Pedigrees of nine independent families from the Yonsei University Hearing Loss (YUHL) cohort. All of the YUHL families exhibited an autosomal dominant pattern of KCNQ4 variants. c Pure-tone audiogram from the affected individuals in the YUHL families. Patients YUHL 450, 493, and 512 had high-frequency hearing loss. Patients YUHL 206 and 261 had flat-type moderate hearing loss, while Patient YUHL 463 had severe and high-frequency hearing loss.