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Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report

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 t...

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Autores principales: Lin, Shuang-Zhu, Zhou, Xin-Yu, Wang, Wan-Qi, Jiang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362507/
https://www.ncbi.nlm.nih.gov/pubmed/34447835
http://dx.doi.org/10.12998/wjcc.v9.i23.6858
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author Lin, Shuang-Zhu
Zhou, Xin-Yu
Wang, Wan-Qi
Jiang, Kai
author_facet Lin, Shuang-Zhu
Zhou, Xin-Yu
Wang, Wan-Qi
Jiang, Kai
author_sort Lin, Shuang-Zhu
collection PubMed
description 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.
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spelling pubmed-83625072021-08-25 Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report Lin, Shuang-Zhu Zhou, Xin-Yu Wang, Wan-Qi Jiang, Kai World J Clin Cases Case Report 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. Baishideng Publishing Group Inc 2021-08-16 2021-08-16 /pmc/articles/PMC8362507/ /pubmed/34447835 http://dx.doi.org/10.12998/wjcc.v9.i23.6858 Text en ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved. https://creativecommons.org/licenses/by-nc/4.0/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/
spellingShingle Case Report
Lin, Shuang-Zhu
Zhou, Xin-Yu
Wang, Wan-Qi
Jiang, Kai
Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title_full Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title_fullStr Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title_full_unstemmed Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title_short Autism with dysphasia accompanied by mental retardation caused by FOXP1 exon deletion: A case report
title_sort autism with dysphasia accompanied by mental retardation caused by foxp1 exon deletion: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362507/
https://www.ncbi.nlm.nih.gov/pubmed/34447835
http://dx.doi.org/10.12998/wjcc.v9.i23.6858
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