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9/1/2023 9:10:38 AM | Browse: 166 | Download: 677
Publication Name World Journal of Clinical Cases
Manuscript ID 85736
Country China
Received
2023-05-13 04:42
Peer-Review Started
2023-05-13 04:43
To Make the First Decision
Return for Revision
2023-07-03 08:24
Revised
2023-07-16 09:54
Second Decision
2023-08-08 02:53
Accepted by Journal Editor-in-Chief
Accepted by Executive Editor-in-Chief
2023-08-08 07:10
Articles in Press
2023-08-08 07:10
Publication Fee Transferred
Edit the Manuscript by Language Editor
2023-08-03 04:32
Typeset the Manuscript
2023-08-24 06:58
Publish the Manuscript Online
2023-09-01 09:10
ISSN 2307-8960 (online)
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: http://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Category Otorhinolaryngology
Manuscript Type Case Report
Article Title Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature
Manuscript Source Unsolicited Manuscript
All Author List Cai-Feng Xia, Rong Yan, Wen-Wen Su and Yu-He Liu
ORCID
Author(s) ORCID Number
Cai-Feng Xia http://orcid.org/0000-0003-3295-2201
Rong Yan http://orcid.org/0009-0000-8118-0442
Wen-Wen Su http://orcid.org/0009-0006-7884-4619
Yu-He Liu http://orcid.org/0000-0002-7470-1905
Funding Agency and Grant Number
Corresponding Author Yu-He Liu, MD, Chief Doctor, 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
Key Words Autosomal dominant hearing loss; MYO7A gene; Non-syndromic hearing loss; Variant; Hereditary hearing loss; Case report
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.
Publish Date 2023-09-01 09:10
Citation Xia CF, Yan R, Su WW, Liu YH. Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature. World J Clin Cases 2023; 11(25): 5962-5969
URL https://www.wjgnet.com/2307-8960/full/v11/i25/5962.htm
DOI https://dx.doi.org/10.12998/wjcc.v11.i25.5962
Full Article (PDF) WJCC-11-5962-with-cover.pdf
Full Article (Word) WJCC-11-5962.docx
CARE Checklist–2016 85736-CARE-Checklist–2016-revision.pdf
Manuscript File 85736_Auto_Edited-JJW-Wang TQ-JLW.docx
Answering Reviewers 85736-Answering reviewers.pdf
Audio Core Tip 85736-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 85736-Conflict-of-interest statement.pdf
Copyright License Agreement 85736-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 85736-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 85736-Language certificate.pdf
Peer-review Report 85736-Peer-review(s).pdf
Scientific Misconduct Check 85736-Bing-Wang JJ-2.png
Scientific Editor Work List 85736-Scientific editor work list.pdf
CrossCheck Report 85736-CrossCheck report.pdf