{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T07:52:04Z","timestamp":1776239524545,"version":"3.50.1"},"reference-count":27,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T00:00:00Z","timestamp":1716249600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82001338"],"award-info":[{"award-number":["82001338"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171172"],"award-info":[{"award-number":["82171172"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2024JJ5521"],"award-info":[{"award-number":["2024JJ5521"]}],"id":[{"id":"10.13039\/501100004735","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004735","name":"Natural Science Foundation of Hunan Province","doi-asserted-by":"publisher","award":["2022JJ30910"],"award-info":[{"award-number":["2022JJ30910"]}],"id":[{"id":"10.13039\/501100004735","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":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background and Aims<\/jats:title><jats:p>This study aimed to report nine Charcot\u2013Marie\u2013Tooth disease (CMT) families with six novel <jats:italic>IGHMBP2<\/jats:italic> mutations in our CMT2 cohort and to summarize the genetic and clinical features of all AR\u2010CMT2S patients reported worldwide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>General information, clinical and neurophysiological data of 275 axonal CMT families were collected. Genetic screening was performed by inherited peripheral neuropathy related genes panel or whole exome sequencing. The published papers reporting AR\u2010CMT2S from 2014 to 2023 were searched in Pubmed and Wanfang databases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our CMT2 cohort, we detected 17 AR\u2010CMT2S families carrying <jats:italic>IGHMBP2<\/jats:italic> mutations and eight were published previously. Among these, c.743\u2009T\u2009&gt;\u2009A (p.Val248Glu), c.884A\u2009&gt;\u2009G (p.Asp295Gly), c.1256C\u2009&gt;\u2009A (p.Ser419*), c.2598_2599delGA (p.Lys868Sfs*16), c.1694_1696delATG (p.Asp565del) and c.2509A\u2009&gt;\u2009T (p.Arg837*) were firstly reported. These patients prominently presented with early\u2010onset typical axonal neuropathy and without respiratory dysfunction. So far, 56 AR\u2010CMT2S patients and 57 different mutations coming from 43 families have been reported in the world. Twenty\u2010nine of 32 missense mutations were clustered in helicase domain and ATPase region. The age at onset ranged from 0.11to 20\u2009years (Mean\u2009\u00b1\u2009SD: 3.43\u2009\u00b1\u20093.88\u2009years) and the majority was infantile\u2010onset (&lt;2\u2009years). The initial symptoms included weakness of limbs (19, 29.7%), delayed milestones (12, 18.8%), gait disturbance (11, 17.2%), feet deformity (8, 12.5%), feet drop (8, 12.5%), etc.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>AR\u2010CMT2S accounted for 6.2% in our CMT2 cohort. We firstly reported six novel <jats:italic>IGHMBP2<\/jats:italic> mutations which expanded the genotypic spectrum of AR\u2010CMT2S. Furthermore, 17 AR\u2010CMT2S families could provide more resources for natural history study, drug research and development.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jns.12633","type":"journal-article","created":{"date-parts":[[2024,5,21]],"date-time":"2024-05-21T23:50:15Z","timestamp":1716335415000},"page":"243-251","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Genotype\u2013phenotype correlations of AR\u2010CMT2S in a cohort of axonal Charcot\u2013Marie\u2013Tooth patients from Central South China"],"prefix":"10.1111","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3448-4264","authenticated-orcid":false,"given":"Lei","family":"Liu","sequence":"first","affiliation":[{"name":"Health Management Center, The Third Xiangya Hospital Central South University  Changsha People's Republic of 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Xiangya Hospital Central South University  Changsha People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Honglan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shunxiang","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huadong","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3823-8148","authenticated-orcid":false,"given":"Ruxu","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Neurology, The Third Xiangya Hospital Central South University  Changsha People's Republic of 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