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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Bibliographic Details
Published in:Frontiers in genetics 2022-08, Vol.13
Main Authors: Chen, Min, Sun, Yixi, Qian, Yeqing, Chen, Na, Li, Hongge, Wang, Liya, Dong, Minyue
Format: Article
Language:English
Subjects:
FOXP1 syndrome
Genetics
global developmental delay
intellectual disability
RNA analysis
splicing variant
WES
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Summary: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.
ISSN:1664-8021
1664-8021
DOI:10.3389/fgene.2022.926070