{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:51:21Z","timestamp":1760784681183,"version":"3.40.5"},"reference-count":47,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,20]],"date-time":"2019-05-20T00:00:00Z","timestamp":1558310400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003968","name":"Iran National Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003968","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2013Marie\u2013Tooth (CMT) is a common neuropathy, and hereditary motor and sensory neuropathy with proximal predominance (HMSN\u2010P) is a recently described rare neuromuscular disease. Although many genes have been implicated for CMT, <jats:italic>TFG<\/jats:italic> is the only known HMSN\u2010P\u2010causing gene. Within the framework of diagnostic criteria, clinical variation is evident among CMT\u2010diagnosed and also HMSN\u2010P\u2010diagnosed individuals. Mutations that cause p.(Pro285Leu) and p.(Gly269Val) in TFG were earlier reported as cause of HMSN\u2010P in two Iranian pedigrees. Here, we report the identification of p.(Gly269Val) in TFG as cause of CMT in a large Iranian pedigree. The clinical features of patients of the three pedigrees are presented and critically compared. Similarities between the two HMSN\u2010P\u2010diagnosed pedigrees with different <jats:italic>TFG<\/jats:italic> mutations, and differences between the two differentially diagnosed pedigrees with the same p.(Gly269Val) mutation were evident. The clinical features of the HMSN\u2010P pedigree with the p.(Pro285Leu) and the CMT pedigree with the p.(Gly269Val) mutation were clearly congruent with the respective diagnoses, whereas the features of the HMSN\u2010P\u2010diagnosed pedigree with the p.(Gly269Val) were intermediate between the other two pedigrees. It is therefore suggested that the clinical features of the three Iranian pedigrees with <jats:italic>TFG<\/jats:italic> mutations and diagnosed with HMSN\u2010P or CMT represent a continuum.<\/jats:p>","DOI":"10.1002\/ajmg.a.61184","type":"journal-article","created":{"date-parts":[[2019,5,21]],"date-time":"2019-05-21T04:36:50Z","timestamp":1558413410000},"page":"1507-1515","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot\u2013Marie\u2013Tooth patients with <i>TFG<\/i> mutation"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0649-6644","authenticated-orcid":false,"given":"Marzieh","family":"Khani","sequence":"first","affiliation":[{"name":"School of Biology College of Science, University of Tehran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanieh","family":"Taheri","sequence":"additional","affiliation":[{"name":"School of Biology College of Science, University of Tehran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hosein","family":"Shamshiri","sequence":"additional","affiliation":[{"name":"Department of Neurology Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henry","family":"Houlden","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Efthymiou","sequence":"additional","affiliation":[{"name":"Department of Molecular Neuroscience UCL Institute of Neurology  London United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Afagh","family":"Alavi","sequence":"additional","affiliation":[{"name":"Genetics Research Center University of Social Welfare and Rehabilitation Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahriar","family":"Nafissi","sequence":"additional","affiliation":[{"name":"Department of Neurology Tehran University of Medical Sciences  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elahe","family":"Elahi","sequence":"additional","affiliation":[{"name":"School of Biology College of Science, University of Tehran  Tehran Iran"},{"name":"Department of Biotechnology College of Science, University of Tehran  Tehran Iran"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,20]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurobiolaging.2014.11.021"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.5114\/fn.2012.30521"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000230225.19797.93"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg910"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1217197110"},{"volume-title":"GeneReviews\u00ae","year":"1993","author":"Bird T. 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