The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot–Marie-tooth neuropathies

Key Points

• To investigate the pathogenicity of the p.(Leu97Ile) variant and its interaction with p.(Arg206Ser) in NEFL-associated Charcot-Marie-Tooth neuropathies.
• Combined clinical evaluation with biochemical and structural analysis
• Assessment of genetic variants and their impacts
• Confirmed the pathogenic nature of p.(Leu97Ile)
• Suggested that p.(Arg206Ser) enhances the biological effect of p.(Leu97Ile)
• Expanded understanding of the genetic and phenotypic variability in NEFL-related neuropathies