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Variants in NEFL, encoding the light chain of neurofilaments, represent a rare cause of CMT and may disrupt filament assembly, axonal transport, and cytoskeletal stability. Because NEFL variants are uncommon and phenotypes variable, the pathogenic relevance of individual substitutions is often difficult to determine. Here, we identified a previously unreported missense variant, p.(Leu97Ile), in three affected individuals. In two, a second variant, p.(Arg206Ser), was present in cis. We therefore aimed to investigate the pathogenic impact of this allele constellation using clinical, biochemical, and structural approaches.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Neurological examination, CMTNS scoring, and electrophysiological studies were performed. Exome sequencing established the genotype. Variant effects were assessed using serum biomarkers, in silico modelling and quantitative immunofluorescence of patient-derived fibroblasts.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Patients showed differing clinical presentations, including moderate adult-onset neuropathy to severe early-onset disease and neuromuscular abnormalities in childhood. Neurophysiology revealed mixed features, and conduction slowing in the child supported classification within the CMT1F spectrum. All carriers exhibited elevated serum NfL; CK was increased in the adult patients. Descriptive biomarker differences between the patients were observed for GDF15, FGF21, Periaxin, and NCAM1. Fibroblasts displayed increased cytoplasmic NfL without altered nuclear metrics. Structural modelling predicted destabilizing effects of both substitutions, with the cis combination producing the strongest deviation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>Integrated clinical, biochemical, and structural evidence support pathogenicity of p.(Leu97Ile) and suggest that p.(Arg206Ser) in cis augments its biological impact. These findings expand the genetic and phenotypic spectrum of NEFL-associated CMT1F.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/hmg\/ddag028","type":"journal-article","created":{"date-parts":[[2026,4,7]],"date-time":"2026-04-07T11:26:59Z","timestamp":1775561219000},"source":"Crossref","is-referenced-by-count":0,"title":["The p.(Leu97Ile) variant expands the genetic landscape of\n                    <i>NEFL<\/i>\n                    -associated Charcot\u2013Marie-tooth neuropathies"],"prefix":"10.1093","volume":"35","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-2636-9731","authenticated-orcid":false,"given":"Menekse","family":"Oeztuerk","sequence":"first","affiliation":[{"name":"Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,","place":["Germany"]},{"name":"BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Walli","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Muhmann","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Catherine","family":"Choueiri","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vera","family":"Dobelmann","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2757-8131","authenticated-orcid":false,"given":"Angela","family":"Abicht","sequence":"additional","affiliation":[{"name":"Medical Genetics Center , Schlosserstra\u00dfe 8, 80335 Munich ,","place":["Germany"]},{"name":"Friedrich-Baur Institute, Ludwig Maximilian University , Ziemssenstra\u00dfe 1, 80336 Munich ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Leube","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ulrike","family":"Schara-Schmidt","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sven G","family":"Meuth","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9841-170X","authenticated-orcid":false,"given":"Rita","family":"Horvath","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurosciences, John Van Geest Centre for Brain Repair, University of Cambridge , Ed Adrian Building, Robinson Way, Cambridge CB2 0PY ,","place":["United Kingdom"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanns","family":"Lochmueller","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","place":["Canada"]},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital , 1053 Carling Avenue, Ottawa ,","place":["Canada"]},{"name":"Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 D\u00fcsseldorf,","place":["Germany"]},{"name":"Department of Pediatric Neurology, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, University Duisburg-Essen , Hufelandstra\u00dfe 55, 45147 Essen,","place":["Germany"]},{"name":"Children's Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, Ontario ,","place":["Canada"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Ruck","sequence":"additional","affiliation":[{"name":"Ruhr University Bochum, BG University Hospital Bergmannsheil, Department of Neurology , Universit\u00e4tsstra\u00dfe 150, 44801 Bochum,","place":["Germany"]},{"name":"BG University Hospital Bergmannsheil, Heimer Institute for Muscle Research , B\u00fcrkle de la Camp-Platz 1, 44789 Bochum ,","place":["Germany"]},{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University , Moorenstra\u00dfe 5, 40225 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