Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy
Yan Liang, Lin Wan, Huimin Yan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Yang · 2024
Read Synonymous variants in the ATP6AP2 gene may lead to developmental and epileptic encephalopathy by Yan Liang, Lin Wan, Huimin Yan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Yang (2024) 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-10808393.txt.
Description
Yan Liang and co-authors report a study, given in the head as a 2023 paper, on a silent gene change that can still cause a grave brain disorder in infancy. The disorder pairs slow development with hard-to-treat seizures. Changes in the gene in view were known to harm the nervous system, but this change leaves the protein code as written, so it was long read as harmless.
The team reports a baby who began tonic seizures at three and a half months, with scans showing poor white matter growth and a small memory area. A lab splice test showed the change makes the gene skip a whole exon, which cuts the protein short. A review of past cases found the same skip in all such patients. The likely harm is a flood of short forms that crowd out the full gene product.
Catalog record
| CREATOR | Yan Liang, Lin Wan, Huimin Yan, Xinting Liu, Jing Zhang, Gang Zhu, Guang Yang |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 16 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |