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Recurrent RNU4-2 n.64_65insT variant in ReNU syndrome identified in exome-negative cases.

Brain & development - 1 Aug 2026

Hiraide Takuya, Shimizu Kenji, Hayashi Taiju, Yamoto Kaori, Asahina Miki, Endoh Yusaku, Hirano Kouichi, Iwashima Satoru, Miyamoto Sachiko, Masunaga Yohei, Fukuda Tokiko, Ogata Tsutomu, Saitsu Hirotomo

Abstract excerpt

INTRODUCTION: ReNU syndrome is a neurodevelopmental disorder (NDD) caused by pathogenic variants in RNU4-2, a non-coding gene encoding the U4 small nuclear RNA (snRNA). As a critical component of the major spliceosome, U4 snRNA is essential for pre-mRNA splicing; however, RNU4-2 is not captured by conventional exome sequencing (ES), often leaving affected individuals undiagnosed. METHODS: To evaluate the...

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PMID: 42419151
DOI: 10.1016/j.braindev.2026.104570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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