Lin SZ, Zhou XY, Wang WQ, Jiang K. Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report. World J Clin Cases 2021; 9(23): 6858-6866 [PMID: 34447835 DOI: 10.12998/wjcc.v9.i23.6858]
Corresponding Author of This Article
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. 2835221172@qq.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/
World J Clin Cases. Aug 16, 2021; 9(23): 6858-6866 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, Wan-Qi Wang, Kai Jiang
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 byNatural 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. 2835221172@qq.com
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
Abstract
BACKGROUND
Forkhead box protein 1 (FOXP1) (OMIM: 605515) at chromosomal region 3p14.1 plays an important regulatory role in cell development and functions by regulating genetic expression. Earlier studies have suggested that FOXP1, an oncogene, is capable of initiating tumorigenicity depending on the cell type. FOXP1 also plays an important role in regulating the cell development and functions of the immune system, e.g., regulating B-cell maturation and mononuclear phagocyte differentiation, and in the occurrence and development of various immune diseases. The mRNA of this gene is widely expressed in humans, and its differential expression is related to numerous diseases.
CASE SUMMARY
A 5-year-old boy mainly presented with attention deficit and hyperactivity disorder and developmental retardation accompanied by gait instability and abnormal facial features (low-set ears). DNA samples were extracted from the child’s and his parents’ peripheral blood to detect whole-exome sequences and whole-genome copy number variations. Results revealed heterozygous deletions of exon 6-21 of FOXP1 gene in the child. Physical examination upon admission showed that the child was generally in good condition, had a moderate nutritional status, a slightly slow response to external stimuli, equally large and equally round bilateral pupils, was sensitive to light reflection, and had poor eye contact and joint attention. He had no meaningful utterance and could not pronounce words properly. He was able to use gestures to simply express his thoughts, to perform simple actions, and to listen to instructions. He had no rash, cafe-au-lait macules, or depigmentation spots. He had thick black hair and low-set ears. He had highly sensitive skin, especially on his face and palms. He had no abnormal palm fingerprint. Cardiopulmonary and abdominal examinations revealed no abnormalities. He had normal limb muscle strength and tension. He showed normal tendon reflexes of both knees. His bilateral Babinski and meningeal irritation signs were negative. He had a normal male vulva.
CONCLUSION
We report the characteristic features of autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion. This study provides a molecular basis for etiological diagnosis and treatment of the child, as well as for genetic counseling for the pedigree.
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.