A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family
Tehmeena Akhter, Sami Khan, Ahmed Abdul Mumeen, Muhammad Asif Naeem, Sheikh Riazuddin, Saima Riazuddin · 2026
Read A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family by Tehmeena Akhter, Sami Khan, Ahmed Abdul Mumeen, Muhammad Asif Naeem, Sheikh Riazuddin, Saima Riazuddin (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/pmc-13570277.txt.
Description
Tehmeena Akhter and co-authors trace a family's learning problems to a shared fault in one gene, in a 2026 study. Four kin in a Pakistani family whose parents are related share strong limits on learning. All showed slow starts in speech and movement in early childhood, weak muscle tone, stiff limbs, and mild differences in the face. The team read the family's exomes to hunt the shared cause.
A rare shift in the gene CCDC82, passed down from both parents, sat in every affected member. It also fit the pattern of earlier reports on this gene. Data on where the gene is active in the brain backed the case. Each solved family sharpens the search for the next.
Catalog record
| CREATOR | Tehmeena Akhter, Sami Khan, Ahmed Abdul Mumeen, Muhammad Asif Naeem, Sheikh Riazuddin, Saima Riazuddin |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 55 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |