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Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.

Clinical genetics - 1 Jul 2026

Hong Juhyeon, Lee Seungbok, Kim Soo Yeon, Kim Taekeun, Shin Woong-Hee, Jang Sesong, Park Ji-Hwan, Jang Dongmin, Park Gunwoo, Cha Jong Ho, Cho Jae So, Cho Anna, Kim Hunmin, Woo Hyewon, Kim Jon Soo, Lim Byung Chan, Lee Ji Eun, Kim Myungshin, Cheon Chong Kun, Choi Jungmin, Chae Jong-Hee

Abstract excerpt

Neurodevelopmental disorders (NDDs) often remain unexplained due to limited assessment of non-coding genomic elements. Motivated by recent reports implicating RNU4-2, which encodes a spliceosomal small nuclear RNA (snRNA), we analyzed whole-genome sequencing data from 15 450 Korean individuals, including 2797 unrelated NDD probands. Rare pathogenic RNU4-2 variants were identified in 20 probands (0.72%), including...

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PMID: 41731653
DOI: 10.1111/cge.70154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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Exploring the Impact of RNU4-2 Defects on Neurodevelopmental Disorders in a Korean Population.PMID 41731653Read ↗

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