A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea
Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci, Luca Angelini, Bianca Laura Cinicola, Alberto Spalice, Matteo Bologna · 2025
Read A novel NKX2-1 frameshift variant expanding the genetic landscape of benign hereditary chorea by Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci, Luca Angelini, Bianca Laura Cinicola, Alberto Spalice, Matteo Bologna (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-12719338.txt.
Description
Simone Aloisio, Martina De Riggi, Adriana Martini and colleagues report a six-year-old girl with benign hereditary chorea caused by a previously unseen gene variant in 2025. The condition brings involuntary movements in childhood and can also involve the thyroid and lungs.
The girl showed jerky movements, a loose grip and imbalance, with normal brain imaging. She had thyroid problems but no lung disease. Genetic testing in 2024 found a new frameshift variant in the NKX2-1 gene, classed as likely pathogenic, and her movements stayed stable over time. Adding the variant to the known list should help doctors separate this mild disorder from progressive childhood movement diseases and counsel families more accurately.
Catalog record
| CREATOR | Simone Aloisio, Martina De Riggi, Adriana Martini, Sofia Grandolfo, Daniele Birreci, Luca Angelini, Bianca Laura Cinicola, Alberto Spalice, Matteo Bologna |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 14 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |