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©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Aug 16, 2021; 9(23): 6858-6866
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6858
Published online Aug 16, 2021. doi: 10.12998/wjcc.v9.i23.6858
Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
Shuang-Zhu Lin, Xin-Yu Zhou, Kai Jiang, Department of Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Wan-Qi Wang, Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China
Author contributions: Lin SZ and Zhou XY collected and analyzed all clinical data and wrote the manuscript; Lin SZ, Zhou XY, and Wang WQ substantially participated in drafting and revising the important intellectual content of the manuscript; All authors have read and approved the final manuscript.
Supported by Natural Science Foundation of Jilin Province , No. 20200201486JC .
Informed consent statement: The study participant had provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All authors report no conflict of interest.
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: Kai Jiang, MD, Professor, Department of Diagnosis and Treatment Center for Children, First Affiliated Hospital to Changchun University of Chinese Medicine, No. 1478 Gongnong Road, Chaoyang District, Changchun 130021, Jilin Province, China.
Received: March 18, 2021
Peer-review started: March 18, 2021
First decision: May 11, 2021
Revised: May 24, 2021
Accepted: June 15, 2021
Article in press: June 15, 2021
Published online: August 16, 2021
Processing time: 140 Days and 12.4 Hours
Peer-review started: March 18, 2021
First decision: May 11, 2021
Revised: May 24, 2021
Accepted: June 15, 2021
Article in press: June 15, 2021
Published online: August 16, 2021
Processing time: 140 Days and 12.4 Hours
Core Tip
Core Tip: We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion. In this case, the FOXP1 gene of the child had a heterozygous deletion variation, and the mutation site was heterozygous deletion in exon 6-21. This study provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.