Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights
This study reports a novel deletion mutation in the IDUA gene in Tunisian MPS I patients, alongside a previously described mutation. The findings enhance understanding of the molecular basis of MPS I and provide insights into the structural effects of these mutations, which could aid in future diagnosis and therapeutic strategies. Future studies should explore the prevalence of the reported mutations in larger cohorts and investigate targeted therapies, such as pharmacological chaperones, to rescue enzymatic activity in patients carrying such mutations.
Authors
- Hajer Foddha (ORCID: https://orcid.org/0000-0003-1490-3772)
- Hassen Ben Abdennebi (ORCID: https://orcid.org/0000-0001-5474-5268)
- Salima Ferchichi (ORCID: https://orcid.org/0000-0002-1532-066X)
- Yessine Amri (ORCID: https://orcid.org/0000-0003-0467-5016)
- Latifa Chkioua (ORCID: https://orcid.org/0000-0002-0538-3552)
- Hela Boudabous (ORCID: https://orcid.org/0000-0002-4368-927X)
- Chaîma Sahli
- Mariem Rebai
- Taïeb Messaoud
Institutions
- University of Monastir (TN)
- Hôpital Farhat Hached (TN)
- Hôpital La Rabta (TN)
- Children's Hospital (TN)
- University of Jendouba (TN)
Publication Details
- Journal
- Molecular Genetics and Metabolism Reports
- Published
- 2025-04-19
- DOI
- https://doi.org/10.1016/j.ymgmr.2025.101222
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00