Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis
Ourayna Batta, Yasmina Rahmuni, Jaber Lyahyai, Zineb Rchiad, Yassamine Doubaj, Abdelaziz Sefiani, Imane Cherkaoui Jaouad · 2026
Read Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis by Ourayna Batta, Yasmina Rahmuni, Jaber Lyahyai, Zineb Rchiad, Yassamine Doubaj, Abdelaziz Sefiani, Imane Cherkaoui Jaouad (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-13606788.txt.
Description
Ourayna Batta and co-authors map the mutation landscape of primary hyperoxaluria in Morocco in a 2026 study. This rare inherited disease floods the body with oxalate, causing kidney stones, calcium deposits, and finally kidney failure.
Three gene forms exist, and cousin marriage in Morocco makes local variant data vital. Over ten years, one hundred thirty-two suspected patients entered a stepwise testing plan. First-pass sequencing of one gene stretch solved nearly three quarters of cases. A targeted panel and whole-exome sequencing then lifted the total solve rate higher. Twelve distinct variants were catalogued, with one change in the main gene clearly most common. The authors lay out a staged diagnostic route tuned to Moroccan patients.
Catalog record
| CREATOR | Ourayna Batta, Yasmina Rahmuni, Jaber Lyahyai, Zineb Rchiad, Yassamine Doubaj, Abdelaziz Sefiani, Imane Cherkaoui Jaouad |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 29 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |