Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Sep 6, 2023; 11(25): 5962-5969
Published online Sep 6, 2023. doi: 10.12998/wjcc.v11.i25.5962
Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
Cai-Feng Xia, Rong Yan, Wen-Wen Su, Yu-He Liu
Cai-Feng Xia, Rong Yan, Wen-Wen Su, Yu-He Liu, Department of Otolaryngology Head and Neck Surgery, Peking University First Hospital, Beijing 100034, China
Yu-He Liu, Department of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing 100050, China
Author contributions: Xia CF and Yan R contributed equally to this work. Xia CF and Yan R conducted the clinical investigations of the patients and drafted the manuscript; Su WW participated in the collection of clinical data; Liu YH supervised the study and revised the manuscript; and all authors have contributed to the manuscript and approved the submitted version.
Informed consent statement: Written informed consent was obtained from all participants or their guardians, and they agreed to publish this case report.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yu-He Liu, MD, Chief Doctor, Doctor, Professor, Department of Otolaryngology Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, No. 95 Yongan Road, Xicheng District, Beijing 100050, China. liuyuhefeng@163.com
Received: May 13, 2023
Peer-review started: May 13, 2023
First decision: July 3, 2023
Revised: July 16, 2023
Accepted: August 8, 2023
Article in press: August 8, 2023
Published online: September 6, 2023
Processing time: 111 Days and 4.5 Hours
Core Tip

Core Tip: Autosomal dominant non-syndromic hearing loss caused by the MYO7A variant (DFNA11) is rare and characterized by post-lingual sensorineural hearing loss with no or mild vestibular dysfunction. To date, only nine variants have been identified to be responsible for DFNA11. Here we present a novel variant (c.1531G>A) causing DFNA11 identified in a three-generation Chinese family. Progressive hearing loss is the only clinical manifestation in this family, and the onset age of affected members is later and more concentrated than that of other DFNA11 families. Our findings further enrich the collection of MYO7A mutations, and our review of the nine reported DFNA11 families can provide a reference for clinical genetic counseling.