{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T00:20:13Z","timestamp":1758846013638,"version":"3.44.0"},"reference-count":27,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T00:00:00Z","timestamp":1753401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004484","name":"Tehran University of Medical Sciences and Health Services","doi-asserted-by":"publisher","award":["1403\u20104\u2010499\u201079679"],"award-info":[{"award-number":["1403\u20104\u2010499\u201079679"]}],"id":[{"id":"10.13039\/501100004484","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>The <jats:italic>GDAP1<\/jats:italic> gene encodes a mitochondrial outer membrane protein crucial for mitochondrial function. Mutations in this gene are associated with different subtypes of Charcot\u2013Marie\u2010Tooth (CMT) disease, inherited in either an autosomal recessive or dominant manner. In this study, we discuss the clinical and genetic aspects of 11 unrelated Iranian <jats:italic>GDAP1<\/jats:italic>\u2010related CMT families.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The probands were selected from a large CMT cohort after whole exome sequencing (WES) analysis. 11 <jats:italic>GDAP1<\/jats:italic>\u2010related CMT families\u201316 patients\u2014were included in this study. Co\u2010segregation analysis was performed to confirm the candidate variants.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In total, eight exonic variants in <jats:italic>GDAP1<\/jats:italic> were identified; two were novel. Among all known variants, a deep intronic variant, c.311\u201023A&gt;G, was found in two families. 11\/16 patients were AR\u2010CMT2K, three were CMT4A, and only two had AD\u2010CMT2K.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Among our variants, two were more significant: c.311\u201023A&gt;G, which has only been documented in another Iranian family and may represent a founder mutation within our population, and c.347T&gt;G, which has exclusively been reported within the Italian population and is recognized as a founder mutation in that country. We found this variant in three unrelated families, suggesting that this variant is not confined to Italy and that codon 347 may be a hotspot codon. Our findings extend the clinical and genetic aspects of <jats:italic>GDAP1<\/jats:italic>\u2010related CMT and emphasize the need to consider intronic variants in genetic analysis. Additionally, we highlight that AD\u2010CMT2K has a milder phenotype than other <jats:italic>GDAP1<\/jats:italic>\u2010related disease types, which could result in an underestimation of the number of AD\u2010CMT2K cases.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.70046","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T17:35:07Z","timestamp":1753464907000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp><i>GDAP1<\/i><\/scp>\u2010Related Charcot\u2013Marie\u2013Tooth Disease: Axonal or Demyelinating Subtype? Autosomal Recessive or Autosomal Dominant Inheritance?"],"prefix":"10.1111","volume":"30","author":[{"given":"Moez","family":"Ravanbod","sequence":"first","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahsa","family":"Mohammadi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aida","family":"Ghasemi","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Solmaz","family":"Jabbarzadeh","sequence":"additional","affiliation":[{"name":"Neuromuscular Research Center Tehran University of Medical Sciences  Tehran Iran"},{"name":"Neurology Department Shariati 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