U2AF2 Missense Variant Associated With Epilepsy and Systemic Dysmorphism: Report of Two Cases and Literature Review
Shiqin Huang, Mei Li, Hai Yuan, Yunli Han, Xiaolan Chen, Yunxuan Su, Xing Li
TL;DR
A genetic variant in U2AF2 is linked to epilepsy and developmental issues, suggesting a new genetic disorder affecting the brain and body.
Contribution
Identifies a novel U2AF2 missense variant associated with systemic and neurological symptoms.
Findings
Recurrent U2AF2 c.445C>T variant found in two cases with systemic dysmorphism and epilepsy.
Suggests a novel spliceosomal gene-brain disorder connection.
Highlights the need for U2AF2 screening in unexplained neurodevelopmental cases.
Abstract
Recurrent U2AF2 c.445C>T variant in two cases with systemic dysmorphism, epilepsy, and neurodevelopmental regression suggests a novel spliceosomal gene‐brain disorder link, warranting U2AF2 screening in unexplained neurodevelopmental cases.
Genes, proteins, chemicals, diseases, species, mutations and cell lines named across the full text — each resolved to its canonical identifier and authoritative record.
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Taxonomy
TopicsRNA Research and Splicing · RNA and protein synthesis mechanisms · RNA regulation and disease