A novel spliceosomopathy caused by de novo SF3B3 variants.

doi:10.1186/s13073-026-01610-4

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

Topics Community

Back to search

Article

A novel spliceosomopathy caused by de novo SF3B3 variants.

Genome medicine - 19 Feb 2026

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Abstract excerpt

BACKGROUND: Spliceosomopathies are syndromes caused by pathogenic variants in genes involved in splicing and mRNA metabolism. Here, we report a novel spliceosomopathy caused by de novo variants in SF3B3, encoding a subunit of the spliceosomal SF3b complex. METHODS: We performed genomic, clinical, computer-aided gestalt analysis, molecular dynamics simulations, and functional studies using patient-derived...

Topics

Humans
RNA Splicing Factors
Female
Fibroblasts
Alternative Splicing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

RNA Splicing

Phenotype

Child, Preschool

Child

Spliceosomes

Mutation

Abnormalities, Multiple

Source

Open in PubMed Open full text

Identifiers

PMID: 41709284
DOI: 10.1186/s13073-026-01610-4
PMCID: PMC13023183

Genes

SF3B3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel spliceosomopathy caused by de novo SF3B3 variants.PMID 41709284Read ↗

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.Semantic proximity Read ↗

Haploinsufficiency of SF3B2 causes craniofacial microsomia.Semantic proximity Read ↗

Structures of SF3b1 reveal a dynamic Achilles heel of spliceosome assembly: Implications for cancer-associated abnormalities and drug discovery.Semantic proximity Read ↗

Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3' splice sites within RNA secondary structures.Semantic proximity Read ↗

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.Semantic proximity Read ↗

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.Semantic proximity Read ↗

SF3B1K700E rewires splicing of cell cycle regulators.Semantic proximity Read ↗

SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.Semantic proximity Read ↗

Disclosing the Impact of Carcinogenic SF3b Mutations on Pre-mRNA Recognition Via All-Atom Simulations.Semantic proximity Read ↗

SF3B2 Haploinsufficiency Associated With Hirschprung Disease and Complex Cardiac Defect Without Craniofacial Microsomia.Semantic proximity Read ↗

Splicing Defects and Cell Death Cause SF3B2-Linked Craniofacial Microsomia.Semantic proximity Read ↗

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