Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay
Simone Khalifeh, Nadine J Makhoul, Samah Trad, Sara Amro, Medhat Siddik, Joe Bedran, Rose-Mary Boustany · 2025
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Description
Simone Khalifeh and co-authors report two new variants in the TRIP12 gene in Lebanese children in this 2025 paper. The gene helps run the cell protein cleanup system. Faulty copies cause Clark-Baraitser syndrome, with developmental delay and intellectual disability. Both children had low muscle tone and delayed speech and movement.
Exome sequencing found a missense variant passed from a father in one child. The other child had a new small deletion and insertion that arose fresh. Both changed amino acids that are kept the same across species. Computer models suggested the changes alter the protein shape. The team compared the cases with 70 published variants and found no distinct pattern. These are the first Lebanese cases reported.
Catalog record
| CREATOR | Simone Khalifeh, Nadine J Makhoul, Samah Trad, Sara Amro, Medhat Siddik, Joe Bedran, Rose-Mary Boustany |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 24 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |