Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

doi:10.1016/j.xhgg.2026.100588

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.

HGG advances - 9 Apr 2026

Mendez Rodrigo, Arriaga Taylor M, Ma Jialan, Bonner Devon E, Emami Sara, Levy Rebecca J, Alsagheir Afaf, Alhaddad Bader, Bakur Khadijah, Ungar Rachel A, Matalon Dena R, Miller Alexander M, Nguyen Jonathan, Smith Kevin S, Scott Stuart A, Liao Linda, Ng Zena, Marwaha Shruti, Ward Alistair, Novacic Danica, Alkuraya Fowzan S, Bernstein Jonathan A, Ganesh Vijay S, O'Donnell-Luria Anne, Montgomery Stephen B, Wheeler Matthew T

Abstract excerpt

We report three individuals with bi-allelic variants in RNU6ATAC, which encodes the U6atac minor spliceosomal small nuclear RNA (snRNA), causing a multisystem minor spliceopathy. Through RNA sequencing analysis, we identified a distinctive excess of minor intron retention (MIR) in two unrelated individuals, which guided the identification of bi-allelic RNU6ATAC variants. The discovery cohort presented with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alleles

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child

Share to Child, Preschool

Share to Introns

Share to Phenotype

Share to RNA, Small Nuclear

Share to RNA Splicing

Share to Transcriptome

Source

Open in PubMed Open full text

Identifiers

PMID: 41808409
DOI: 10.1016/j.xhgg.2026.100588
PMCID: PMC13049632

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations.PMID 41808409Read ↗

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Semantic proximity Read ↗

Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes.Semantic proximity Read ↗

Transcriptome-wide outlier approach identifies individuals with minor spliceopathiesSemantic proximity Read ↗

The minor spliceosome is a master immune regulatorSemantic proximity Read ↗

Minor Intron Splicing from Basic Science to DiseaseSemantic proximity Read ↗

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.Semantic proximity Read ↗

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia.Semantic proximity Read ↗

The emerging role of minor intron splicing in neurological disordersSemantic proximity Read ↗

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

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Semantic proximity Read ↗

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defectsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.