Haploinsufficiency of SF3B2 causes craniofacial microsomia
Aug 3, 2021 · The results establish haploinsufficient variants in SF3B2 as the most prevalent genetic cause of CFM, explaining ~3% of sporadic and ~25% of familial cases.
SF3B2 Gene - GeneCards | SF3B2 Protein | SF3B2 Antibody
Oct 2, 2024 · SF3B2 (Splicing Factor 3b Subunit 2) is a Protein Coding gene. Diseases associated with SF3B2 include Craniofacial Microsomia 1 and Craniofacial Microsomia. Among its related pathways are Processing of Capped Intron-Containing Pre-mRNA and mRNA Splicing - Minor Pathway.
SF3B2 - Wikipedia
This gene encodes subunit 2 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP).
Haploinsufficiency of SF3B2 causes craniofacial microsomia
Aug 3, 2021 · We describe twenty individuals from seven kindreds harboring de novo or transmitted haploinsufficient variants in SF3B2. Probands display mandibular hypoplasia, microtia, facial and preauricular tags, epibulbar dermoids, lateral oral clefts in addition to skeletal and cardiac abnormalities.
The SF3b complex: splicing and beyond | Cellular and ... - Springer
The SF3b complex is an intrinsic component of the functional U2 small nuclear ribonucleoprotein (snRNP). As U2 snRNP enters nuclear pre-mRNA splicing, SF3b plays key roles in recognizing the branch point sequence (BPS) and facilitating spliceosome assembly and activation.
SF3B2 Haploinsufficiency Associated With Hirschprung Disease …
Haploinsufficiency of SF3B2 is associated with craniofacial microsomia, characterized by mandibular hypoplasia and microtia, often with preauricular tags or pits, epibulbar dermoids, and cleft palate.
Dual function of SF3B2 on chromatin and RNA to regulate …
Jun 17, 2022 · SF3B2 is enriched around the promoter element on chromatin and the transcription termination site on RNA. SF3B2 is involved in the regulation of RNA stability. According to the SF3B2-binding profile, SF3B2 regulates RNA polymerase II …
Craniofacial microsomia 1 - NIH Genetic Testing Registry (GTR)
Clinical resource with information about Craniofacial microsomia 1 and its clinical features, SF3B2, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, …
Craniofacial Microsomia - myFace
It is thought that mutations in the SF3B2 gene may disrupt cranial neural crest cell development, resulting in craniofacial microsomia. To date, SF3B2 gene mutations are the most frequently observed genetic basis of craniofacial microsomia, but they still only account for 5% of cases.
Haploinsufficiency of SF3B2 causes craniofacial microsomia
Targeted morpholino knockdown of SF3B2 in Xenopus results in disruption of cranial neural crest precursor formation and subsequent craniofacial cartilage defects, supporting a link between spliceosome mutations and impaired neural crest development in congenital craniofacial disease.