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Article

Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.

Nature medicine - 1 Aug 2024

Greene Daniel, Thys Chantal, Berry Ian R, Jarvis Joanna, Ortibus Els, Mumford Andrew D, Freson Kathleen, Turro Ernest

Abstract excerpt

Most people with intellectual disability (ID) do not receive a molecular diagnosis following genetic testing. To identify new etiologies of ID, we performed a genetic association analysis comparing the burden of rare variants in 41,132 noncoding genes between 5,529 unrelated cases and 46,401 unrelated controls. RNU4-2, which encodes U4 small nuclear RNA, a critical component of the spliceosome, was the most...

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Identifiers

PMID: 38821540
DOI: 10.1038/s41591-024-03085-5
PMCID: PMC11333284

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Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.PMID 38821540Read ↗

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

<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disordersSemantic proximity Read ↗

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

Re-analysis of whole genome sequencing ends a diagnostic odyssey: Case report of an RNU4-2 related neurodevelopmental disorder.Semantic proximity Read ↗

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.Semantic proximity Read ↗

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

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.Semantic proximity Read ↗

Guidance for clinical variant classification in genes for spliceosomal small nuclear RNAsSemantic proximity Read ↗

Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorderSemantic proximity Read ↗

Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathiesSemantic proximity Read ↗

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