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Article

Global developmental delay, systemic dysmorphism and epilepsy in a patient with a de novo U2AF2 variant.

Journal of human genetics - 1 Dec 2021

Hiraide Takuya, Tanaka Taihei, Masunaga Yohei, Ohkubo Yumiko, Nakashima Mitsuko, Fukuda Tokiko, Ogata Tsutomu, Saitsu Hirotomo

Abstract excerpt

U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre-mRNA splicing factor in an early step of splicing. Alternative splicing plays an important role in neuronal development, and disorders of RNA processing steps are implicated in neurological disorders. Recently, the large trio whole-exome sequencing study reported U2AF2 as a novel gene significantly associated with developmental disorders:...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 34112922
DOI: 10.1038/s10038-021-00948-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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