Mucopolysaccharidosis type I: founder effect of the p.P533R mutation in North Africa
The p.P533R missense mutation was identified in each patient originated from Libya, Mauritania, Morocco and Tunisia. Furthermore, these MPSI patients exhibited the same IDUA haplotype. The occurrence of a shared AAGGGTG haplotype, among North African populations may be attributed to substantial historical gene exchange between these groups, likely stemming from migration, inter-ethnic marriage, or other forms of interaction throughout history.
Authors
- Sandrine Laradi
- 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)
- Najat Alif
- Chayma Sahli
- Latifa Chkioua (ORCID: https://orcid.org/0000-0002-0538-3552)
- Taieb Massoud
- Fadoua Bouzid
- Hela Boudabous (ORCID: https://orcid.org/0000-0002-4368-927X)
- Neji Tbib
- Houda El Fissi
Institutions
- University of Monastir (TN)
- Hôpital Farhat Hached (TN)
- Université Ibn Zohr (MA)
- Hôpital La Rabta (TN)
- Eurofins (France) (FR)
- Children's Hospital (TN)
- University of Jendouba (TN)
Publication Details
- Journal
- BMC Genomics
- Published
- 2024-10-09
- DOI
- https://doi.org/10.1186/s12864-024-10724-1
- Citations
- 3
- Primary Topic
- Lysosomal Storage Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.98