Hereditary Neuropathy in Adult Patients from the Eastern Region of Libya

A BSTRACT Background: Hereditary peripheral neuropathy (HPN), particularly Charcot–Marie–Tooth (CMT) disease, is genetically diverse. Objectives: The objective of this study was to explore the genetic diagnosis of HPN in eastern Libya. Patients and Methods: A case series of 18 patients was recruited by the Eastern Libyan Sub-Committee for Genetic Neuromuscular Disorders between February 2022 and January 2024. Patients underwent clinical evaluations and genetic testing, including whole-exome sequencing (WES) using next-generation sequencing (NGS). Data were analyzed and presented as numbers and percentages. Results: Among the patients, eight belonged to four families, and 10 were sporadic. Age of onset varied (1–54 years), with clinical presentations consistent with global and African reports. Autosomal dominant CMT was the most common (5.5%), aligning with global trends but contrasting with reports from North Africa, where recessive forms often dominate. Thirteen genes were identified, eight through WES, including PMP22, MPZ, PRX, GJB1, MFN2, and GAN, resembling profiles similar in African populations. A novel finding was the detection of four copies (quadruplication) of exons 12, 13, and 14 of the SETX gene in one patient, a previously unreported association with autosomal dominant neuropathy. Conclusion: This study provides valuable insights into the genetic and clinical profiles of hereditary neuropathy in adult patients from eastern Libya, representing a significant step forward. Leveraging advanced genetic testing and a multidisciplinary approach can improve diagnostic precision and therapeutic outcomes for patients with these complex disorders. The findings also emphasize the need for expanded genetic research and healthcare initiatives in underrepresented regions such as Libya.