Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft
Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet, Alexander Gerdom, Nicole Revencu, Miikka Vikkula, Elfride De Baere · 2025
Read Likely Pathogenic/Pathogenic Variants in the Spliceosome Complex Genes SNRNP200, SF3B1, SF3B2, and SF3B4 Implicated in Nonsyndromic Orofacial Cleft by Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet, Alexander Gerdom, Nicole Revencu, Miikka Vikkula, Elfride De Baere (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12714162.txt.
Description
A team of geneticists links spliceosome gene variants to non-syndromic facial clefts in a paper from 2025. Orofacial clefts such as cleft palate have a murky genetic basis when they occur alone. The team suspected genes that run the spliceosome, the machine that edits RNA messages. They sequenced the protein-coding DNA of two hundred twenty-four unrelated patients and filtered for rare, damaging variants.
Six likely damaging variants turned up in four spliceosome genes. They appeared in about three percent of the cohort, across several families. Structure modeling suggested how the changes could disturb the proteins. The authors propose these genes as risk factors for clefts. Replication in larger cohorts is still needed.
Catalog record
| CREATOR | Peyman Ranji, Eleonore Pairet, Raphael Helaers, Pascal Brouillard, Bénédicte Bayet, Alexander Gerdom, Nicole Revencu, Miikka Vikkula, Elfride De Baere |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 48 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |