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Article

ReNU Syndrome and the RNU4-2 Mutation: A Missed Cause of Childhood Neurodevelopmental Delay.

Journal of mother and child - 1 Jan 2026

Hussain Jawairya Muhammad, Ilyas Laiba, Amir Areeba, Azlan Muhammad

Abstract excerpt

ReNU syndrome is a rare but increasingly recognized syndromic neurodevelopmental disorder caused by heterozygous de novo variants in the non-coding gene RNU4-2, which encodes the U4 small nuclear RNA (snRNA), a critical component of the major spliceosome. Recurrent pathogenic variants cluster within an 18-base-pair critical region of RNU4-2 and disrupt normal spliceosome function by altering 5' splice-site usage....

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Identifiers

PMID: 42285908
DOI: 10.34763/jmotherandchild.20263001.d-26-00014
PMCID: PMC13263312

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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ReNU Syndrome and the RNU4-2 Mutation: A Missed Cause of Childhood Neurodevelopmental Delay.PMID 42285908Read ↗

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.Semantic proximity Read ↗

ReNU syndrome - a newly discovered prevalent neurodevelopmental disorder.Semantic proximity Read ↗

A Clinical Study of Nine Patients With ReNU Syndrome.Semantic proximity Read ↗

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

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 ↗

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

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

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

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

Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsySemantic proximity Read ↗

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