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To date, more than 100 and 30 genes have been reported to cause these disorders, respectively. This study aimed to identify <jats:italic>INF2<\/jats:italic> mutations in Korean patients with CMT. This study was conducted with 743 Korean families with CMT who were negative for <jats:italic>PMP22<\/jats:italic> duplication. In addition, a family with FSGS was included in this study. <jats:italic>INF2<\/jats:italic> mutations were screened using whole exome sequencing (WES) and filtering processes. As the results, four pathogenic <jats:italic>INF2<\/jats:italic> mutations were identified in families with different clinical phenotypes: p.L78P and p.L132P in families with symptoms of both CMT and FSGS; p.C104Y in a family with CMT; and p.R218Q in a family with FSGS. Moreover, different CMT types were observed in families with CMT symptoms: CMT1 in two families and Int\u2010CMT in another family. Hearing loss was observed in two families with CMT1. Pathogenicity was predicted by in silico analyses, and considerable conformational changes were predicted in the mutant proteins. Two mutations (p.L78P and p.C104Y) were unreported, and three families showed de novo mutations that were putatively occurred from fathers. This study suggests that patients with <jats:italic>INF2<\/jats:italic> mutations show a broad phenotypic spectrum: CMT1, CMT1\u2009+\u2009FSGS, CMTDIE + FSGS, and FSGS. Therefore, the genotype\u2010phenotype correlation may be more complex than previously recognized. We believe that this study expands the clinical spectrum of patients with <jats:italic>INF2<\/jats:italic> mutations and will be helpful in the molecular diagnosis of CMT and FSGS.<\/jats:p>","DOI":"10.1111\/jns.12530","type":"journal-article","created":{"date-parts":[[2023,1,13]],"date-time":"2023-01-13T16:59:58Z","timestamp":1673629198000},"page":"108-118","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["<i>INF2<\/i> mutations in patients with a broad phenotypic spectrum of Charcot\u2010Marie\u2010Tooth disease and focal segmental glomerulosclerosis"],"prefix":"10.1111","volume":"28","author":[{"given":"Jin Hee","family":"Park","sequence":"first","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Mi","family":"Kwon","sequence":"additional","affiliation":[{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Da Eun","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Biological Sciences Kongju National University  Gongju South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hye Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[{"name":"Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine  Seoul South Korea"},{"name":"Cell &amp; Gene Theraphy Institute Samsung Medical Center  Seoul South 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