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Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual...

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Autores principales: Chen, Min, Sun, Yixi, Qian, Yeqing, Chen, Na, Li, Hongge, Wang, Liya, Dong, Minyue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388729/
https://www.ncbi.nlm.nih.gov/pubmed/35991577
http://dx.doi.org/10.3389/fgene.2022.926070
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author Chen, Min
Sun, Yixi
Qian, Yeqing
Chen, Na
Li, Hongge
Wang, Liya
Dong, Minyue
author_facet Chen, Min
Sun, Yixi
Qian, Yeqing
Chen, Na
Li, Hongge
Wang, Liya
Dong, Minyue
author_sort Chen, Min
collection PubMed
description FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual effects of the sequence changes are still unknown. In this study, a de novo splicing variant (c.1652 + 5 G>A) of the FOXP1 gene was identified in a patient with global developmental delay, mild intellectual disability, speech delay, and autistic features. Assessed by TA-cloning, the variant promoted the skipping of exon 18 and a premature stop codon (p.Asn511*), resulting in a predicted truncated protein. This variant, that is lacking the forkhead-box DNA-binding domain and nuclear localization signal 2, may disrupt the protein function and thus cause FOXP1 syndrome-related symptoms. Our study extends the phenotypic and allelic spectra of the FOXP1 syndrome.
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spelling pubmed-93887292022-08-20 Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene Chen, Min Sun, Yixi Qian, Yeqing Chen, Na Li, Hongge Wang, Liya Dong, Minyue Front Genet Genetics FOXP1 syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, and language delay, with or without autistic features. Several splicing variants have been reported for this condition, but most of them lack functional evidence, and the actual effects of the sequence changes are still unknown. In this study, a de novo splicing variant (c.1652 + 5 G>A) of the FOXP1 gene was identified in a patient with global developmental delay, mild intellectual disability, speech delay, and autistic features. Assessed by TA-cloning, the variant promoted the skipping of exon 18 and a premature stop codon (p.Asn511*), resulting in a predicted truncated protein. This variant, that is lacking the forkhead-box DNA-binding domain and nuclear localization signal 2, may disrupt the protein function and thus cause FOXP1 syndrome-related symptoms. Our study extends the phenotypic and allelic spectra of the FOXP1 syndrome. Frontiers Media S.A. 2022-08-05 /pmc/articles/PMC9388729/ /pubmed/35991577 http://dx.doi.org/10.3389/fgene.2022.926070 Text en Copyright © 2022 Chen, Sun, Qian, Chen, Li, Wang and Dong. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Chen, Min
Sun, Yixi
Qian, Yeqing
Chen, Na
Li, Hongge
Wang, Liya
Dong, Minyue
Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title_full Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title_fullStr Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title_full_unstemmed Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title_short Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene
title_sort case report: foxp1 syndrome caused by a de novo splicing variant (c.1652+5 g>a) of the foxp1 gene
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9388729/
https://www.ncbi.nlm.nih.gov/pubmed/35991577
http://dx.doi.org/10.3389/fgene.2022.926070
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