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©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jan 14, 2022; 10(2): 607-617
Published online Jan 14, 2022. doi: 10.12998/wjcc.v10.i2.607
Published online Jan 14, 2022. doi: 10.12998/wjcc.v10.i2.607
Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report
Wen-Xin Lin, Ying-Ying Chai, Ting-Ting Huang, Xia Zhang, Guo Zheng, Gang Zhang, Yan-Jun Huang, Department of Neurology, Children’s Hospital of Nanjing Medical University, Nanjing 210000, Jiangsu Province, China
Fang Peng, Department of Neurology, Huashan Hospital, Fudan University, Shanghai 200040, China
Author contributions: Lin WX performed the data analysis and drafted the manuscript; Chai YY conducted the molecular genetic studies and drafted the manuscript; Huang TT, Zhang X, Zheng G, Zhang G and Peng F participated in the design of the study; Huang YJ conceived the study, participated in its design and coordination and helped to draft the manuscript; all authors read and approved the final manuscript.
Supported by the Six Talent Peaks Project in Jiangsu Province , No. 2016-YY-055 .
Informed consent statement: Written informed consent for publication was obtained from the parents.
Conflict-of-interest statement: The authors report having no conflicts of interest in relation to 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: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Yan-Jun Huang, PhD, Additional Professor, Chief Physician, Department of Neurology, Children’s Hospital of Nanjing Medical University, No. 72 Guangzhou Road, Nanjing 210000, Jiangsu Province, China. njhuang2013@126.com
Received: January 31, 2021
Peer-review started: January 31, 2021
First decision: July 16, 2021
Revised: July 19, 2021
Accepted: December 9, 2021
Article in press: December 9, 2021
Published online: January 14, 2022
Peer-review started: January 31, 2021
First decision: July 16, 2021
Revised: July 19, 2021
Accepted: December 9, 2021
Article in press: December 9, 2021
Published online: January 14, 2022
Core Tip
Core Tip: We report a twin infant with lissencephaly (LIS). The twins both carried the novel compound heterozygous GPR56 mutations, p.F76fs and p.H607fs, which have not been reported in the Human Gene Mutation Database. To our knowledge, this is the first case of GRP56-related LIS. Therefore, GPR56 gene mutations may lead to LIS.