Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

doi:10.1038/s10038-025-01442-x

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Article

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

Journal of human genetics - 1 Jun 2026

Hayashi Yukina, Kajiwara Kenta, Mizuno Seiji, Okamoto Nobuhiko, Chan Mei Yan, Goto Tomohide, Hayakawa Seiichi, Kato Mitsuhiro, Kim Chong Ae, Lev Dorit, Moey Lip Hen, Taylor Juliet, Gregersen Nerine, Nezer-Kaner Ifat, Keng Wee Teik, Okada Satoshi, Osaka Hitoshi, Sagie Tally, Sakai Yasunari, Tashiro Katsuya, Yap Patrick, Fu Li, Iwama Kazuhiro, Liang Qiaowei, Nishimura Naoto, Saito Suzuran, Sakamoto Masamune, Utsuno Yasuhiro, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Hamanaka Kohei, Miyatake Satoko, Mizuguchi Takeshi, Fujita Atsushi, Matsumoto Naomichi

Abstract excerpt

The accurate removal of intronic sequences from pre-mRNA by the spliceosome is essential for correct gene expression, with small nuclear RNAs (snRNAs) such as U4 playing structural and regulatory roles in catalyzing this. De novo variants in the highly constrained critical region including the T-loop region of RNU4-2 have been linked to ReNU syndrome, a neurodevelopmental disorder, but the broader mutational...

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PMID: 41408479
DOI: 10.1038/s10038-025-01442-x

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Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.PMID 41408479Read ↗

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.Semantic proximity Read ↗

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changesSemantic proximity Read ↗

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De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.Semantic proximity Read ↗

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruptionSemantic proximity Read ↗

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