Comprehensive analysis of a novel LYST mutation in a Tunisian patient with Chediak-Higashi syndrome
The study identifies a novel LYST mutation in a Tunisian patient with CHS, expanding the spectrum of known genetic variants associated with the disease. The findings highlight the importance of genetic screening in populations with high consanguinity and underscore the need for targeted therapies to address the molecular defects in CHS.
Authors
- Hajer Foddha (ORCID: https://orcid.org/0000-0003-1490-3772)
- Yessine Amri (ORCID: https://orcid.org/0000-0003-0467-5016)
- Rihem Mezrigui
- I. Kooli (ORCID: https://orcid.org/0000-0002-1771-7038)
- Amani Abderahmene
- Rym Dabboubi
- A. Toumi (ORCID: https://orcid.org/0000-0001-6883-822X)
- Saoussen Chouchène (ORCID: https://orcid.org/0000-0003-1428-9856)
- Mohsen Hassine
- Taïeb Messaoud
- Kawthar Hadj Khalifa
Institutions
- University of Monastir (TN)
- Hôpital Sahloul (TN)
- Hospital Fatuma Bourguiba Monastir (TN)
Publication Details
- Journal
- BMC Medical Genomics
- Published
- 2025-05-27
- DOI
- https://doi.org/10.1186/s12920-025-02145-0
- Primary Topic
- Autoimmune and Inflammatory Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00