Lin WX, Chai YY, Huang TT, Zhang X, Zheng G, Zhang G, Peng F, Huang YJ. Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report. World J Clin Cases 2022; 10(2): 607-617 [PMID: 35097086 DOI: 10.12998/wjcc.v10.i2.607]
Corresponding Author of This Article
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
Research Domain of This Article
Pediatrics
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
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 bythe 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 Processing time: 345 Days and 23.5 Hours
Abstract
BACKGROUND
Lissencephaly (LIS) is a malformation of cortical development with broad gyri, shallow sulci and thickened cortex characterized by developmental delays and seizures. Currently, 20 genes have been implicated in LIS. However, GRP56-related LIS has never been reported. GRP56 is considered one of the causative genes for bilateral frontoparietal polymicrogyria. Here, we report a twin infant with LIS and review the relevant literature. The twins both carried the novel compound heterozygous GPR56 mutations.
CASE SUMMARY
A 5-mo-old female infant was hospitalized due to repeated convulsions for 1 d. The patient had a flat head deformity that manifested as developmental delays and a sudden onset of generalized tonic-clonic seizures at 5 mo without any causes. The electroencephalography was normal. Brain magnetic resonance imaging revealed a simple brain structure with widened and thickened gyri and shallow sulci. The white matter of the brain was significantly reduced. Patchy long T1 and T2 signals could be seen around the ventricles, which were expanded, and the extracerebral space was widened. Genetic testing confirmed that the patient carried the GPR56 gene compound heterozygous mutations c.228delC (p.F76fs) and c.1820_1821delAT (p.H607fs). The unaffected father carried a heterozygous c.1820_1821delAT mutation, and the unaffected mother carried a heterozygous c.228delC mutation. The twin sister carried the same mutations as the proband. The patient was diagnosed with LIS.
CONCLUSION
This is the first case report of LIS that is likely caused by mutations of the GPR56 gene.
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.
