A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders
Simone Treccarichi, Mirella Vinci, Maria Grazia Figura, Antonino Musumeci, Miriam Virgillito, Carla Papa, Valeria Chiavetta, Desiree Brancato, Francesca Bruno, Concetta Federico, Justin Simo, Roberta La Piana, Salvatore Saccone, Francesco Calì · 2026
Read A de novo Loss-of-function Variant in RAPGEF6 Supports its Role in Neuropsychiatric Disorders by Simone Treccarichi, Mirella Vinci, Maria Grazia Figura, Antonino Musumeci, Miriam Virgillito, Carla Papa, Valeria Chiavetta, Desiree Brancato, Francesca Bruno, Concetta Federico, Justin Simo, Roberta La Piana, Salvatore Saccone, Francesco Calì (2026) 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/PMC13260025.txt.
Description
Simone Treccarichi leads a 2026 genetics case study of a newly found variant in a gene called RAPGEF6. A variant is a change in a gene's code, and de novo means it appeared new in this person rather than being inherited. The patient had psychiatric disorders and mild intellectual disability. Trio-based whole-exome sequencing, which reads the protein-coding genes of a patient and both parents, found the change.
The variant shifts the reading frame of the gene and was classed as likely disease-causing under standard criteria. Evidence suggests it triggers destruction of the gene's message, so little protein is made. Brain data show the gene is active across the whole lifespan and rises as nerve cells mature in lab tests. The authors argue that having only one working copy contributes to developmental and psychiatric problems.
Catalog record
| CREATOR | Simone Treccarichi, Mirella Vinci, Maria Grazia Figura, Antonino Musumeci, Miriam Virgillito, Carla Papa, Valeria Chiavetta, Desiree Brancato, Francesca Bruno, Concetta Federico, Justin Simo, Roberta La Piana, Salvatore Saccone, Francesco Calì |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 38177 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |