{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T14:03:03Z","timestamp":1777471383013,"version":"3.51.4"},"reference-count":16,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T00:00:00Z","timestamp":1693872000000},"content-version":"vor","delay-in-days":247,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"name":"H3Afria initiative","award":["5U54NS065712"],"award-info":[{"award-number":["5U54NS065712"]}]},{"name":"H3Afria initiative","award":["5R01NS105755"],"award-info":[{"award-number":["5R01NS105755"]}]},{"DOI":"10.13039\/501100001659","name":"German Research Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,8,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>CADM3 has been recently reported causing a rare axonal Charcot\u2013Marie\u2013Tooth disease in three independent Caucasian families carrying a recurrent change. We describe the first alternative causative mutation in CADM3 in a family from black African and also observed de novo in a patient of Caucasian ancestry. The disease inheritance was consistent with autosomal dominant and sporadic patterns, respectively. Eight patients and their relatives were enroled from both families. The mean age at diagnosis was 33.9 years, and walking difficulty was commonly the first symptom. Neurological examination showed distal muscle weakness and atrophy, sensory loss and foot and hand deformities. A high clinical variability was noted, but as seen in CADM3-associated neuropathy, symptoms were more pronounced in the arms in some patients. Nerve conduction studies showed no response in most of the examined nerves, and an axonal type of neuropathy, where recorded. Whole exome sequencing revealed a novel missense variant (c.1102G&amp;gt;T; Gly368Cys) in CADM3, segregating with the disease. Functional analyses showed a significant decrease in CADM3-Gly368Cys protein levels in the membrane and major structural changes in its predicted secondary structure. Therefore, we extend the genotype spectrum of CADM3, underlining the need for genetic studies in underrepresented populations like in Africa.<\/jats:p>","DOI":"10.1093\/braincomms\/fcad227","type":"journal-article","created":{"date-parts":[[2023,9,5]],"date-time":"2023-09-05T10:07:46Z","timestamp":1693908466000},"source":"Crossref","is-referenced-by-count":3,"title":["Novel variant in <i>CADM3<\/i> causes Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.1093","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4279-7380","authenticated-orcid":false,"given":"Abdoulaye","family":"Yalcouy\u00e9","sequence":"first","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"},{"name":"Division of Human Genetics, Department of Pathology, University of Cape Town , Cape Town , South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5669-7415","authenticated-orcid":false,"given":"Adriana P","family":"Rebelo","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lassana","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynette","family":"Rives","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center , Nashville , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1680-5183","authenticated-orcid":false,"given":"Salia","family":"Bamba","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joy","family":"Cogan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center , Nashville , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin","family":"Esoh","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Pathology, University of Cape Town , Cape Town , South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salimata","family":"Diarra","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"},{"name":"Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke , Bethesda , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly M","family":"Ezell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center , Nashville , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdoulaye","family":"Tam\u00e9ga","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheick O","family":"Guinto","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire Point \u2018G\u2019 , Bamako , Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5320-9807","authenticated-orcid":false,"given":"Maike F","family":"Dohrn","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami , USA"},{"name":"Department of Neurology, Medical Faculty RWTH Aachen University , Aachen , Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rizwan","family":"Hamid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Vanderbilt University Medical Center , Nashville , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth H","family":"Fischbeck","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke , Bethesda , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephan","family":"Zuchner","sequence":"additional","affiliation":[{"name":"Dr. John T. Macdonald Foundation Department of Human Genetics, John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine , Miami , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guida","family":"Landour\u00e9","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d\u2019Odontostomatologie, USTTB , Bamako , Mali"},{"name":"Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke , Bethesda , USA"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire Point \u2018G\u2019 , Bamako , Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2023,9,5]]},"reference":[{"key":"2023101118342810900_fcad227-B1","volume-title":"GeneReviews(\u00ae)","author":"Bird","year":"1993"},{"key":"2023101118342810900_fcad227-B2","volume-title":"Charcot Marie Tooth. StatPearls","author":"Nagappa","year":"2021"},{"issue":"11","key":"2023101118342810900_fcad227-B3","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/s41582-019-0254-5","article-title":"Next-generation sequencing in Charcot-Marie-Tooth disease: Opportunities and challenges","volume":"15","author":"Pipis","year":"2019","journal-title":"Nat Rev Neurol"},{"issue":"2","key":"2023101118342810900_fcad227-B4","doi-asserted-by":"crossref","first-page":"79","DOI":"10.1007\/s10048-019-00591-4","article-title":"Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2","volume":"21","author":"Lin","year":"2020","journal-title":"Neurogenetics"},{"issue":"4","key":"2023101118342810900_fcad227-B5","doi-asserted-by":"crossref","first-page":"2269","DOI":"10.1007\/s13311-021-01099-2","article-title":"Axonal Charcot-Marie-Tooth disease: From common pathogenic mechanisms to emerging treatment opportunities","volume":"18","author":"McCray","year":"2021","journal-title":"Neurotherapeutics"},{"issue":"8","key":"2023101118342810900_fcad227-B6","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1136\/jnnp-2014-308826","article-title":"CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: A cross-sectional analysis","volume":"86","author":"Fridman","year":"2015","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"4","key":"2023101118342810900_fcad227-B7","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1002\/acn3.402","article-title":"A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss","volume":"4","author":"Guinto","year":"2017","journal-title":"Ann Clin Transl Neurol"},{"key":"2023101118342810900_fcad227-B8","doi-asserted-by":"crossref","first-page":"116675","DOI":"10.1016\/j.jns.2020.116675","article-title":"A novel variant in the spatacsin gene causing SPG11 in a Malian family","volume":"411","author":"Landour\u00e9","year":"2020","journal-title":"J Neurol Sci"},{"issue":"1","key":"2023101118342810900_fcad227-B9","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1007\/s00415-012-6738-5","article-title":"Novel mutation in the ATM gene in a Malian family with ataxia telangiectasia","volume":"260","author":"Landour\u00e9","year":"2013","journal-title":"J Neurol"},{"issue":"4","key":"2023101118342810900_fcad227-B10","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1007\/s10048-009-0190-4","article-title":"Novel mutation in the NHLRC1 gene in a Malian family with a severe phenotype of Lafora disease","volume":"10","author":"Traor\u00e9","year":"2009","journal-title":"Neurogenetics"},{"issue":"7","key":"2023101118342810900_fcad227-B11","doi-asserted-by":"crossref","first-page":"e00782","DOI":"10.1002\/mgg3.782","article-title":"A novel mutation in the GARS gene in a Malian family with Charcot-Marie-Tooth disease","volume":"7","author":"Yalcouye","year":"2019","journal-title":"Mol Genet Genom Med"},{"issue":"4","key":"2023101118342810900_fcad227-B12","doi-asserted-by":"crossref","first-page":"1197","DOI":"10.1093\/brain\/awab019","article-title":"A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement","volume":"144","author":"Rebelo","year":"2021","journal-title":"Brain"},{"issue":"Web Server issue","key":"2023101118342810900_fcad227-B13","doi-asserted-by":"crossref","first-page":"W384","DOI":"10.1093\/nar\/gkt458","article-title":"GalaxyRefine: Protein structure refinement driven by side-chain repacking","volume":"41","author":"Heo","year":"2013","journal-title":"Nucleic Acids Res"},{"key":"2023101118342810900_fcad227-B14","author":"Schr\u00f6dinger"},{"key":"2023101118342810900_fcad227-B15","doi-asserted-by":"crossref","first-page":"135357","DOI":"10.1016\/j.neulet.2020.135357","article-title":"Genetic mechanisms of peripheral nerve disease","volume":"742","author":"Stavrou","year":"2021","journal-title":"Neurosci Lett"},{"issue":"1","key":"2023101118342810900_fcad227-B16","doi-asserted-by":"crossref","first-page":"107400","DOI":"10.1016\/j.jsb.2019.10.002","article-title":"Modeling membrane proteins: The importance of cysteine amino-acids","volume":"209","author":"Grazhdankin","year":"2020","journal-title":"J Struct Biol"}],"container-title":["Brain Communications"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/5\/5\/fcad227\/51506299\/fcad227.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/braincomms\/article-pdf\/5\/5\/fcad227\/51506299\/fcad227.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T23:31:02Z","timestamp":1697067062000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/braincomms\/article\/doi\/10.1093\/braincomms\/fcad227\/7259976"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2023,8,31]]}},"URL":"https:\/\/doi.org\/10.1093\/braincomms\/fcad227","relation":{},"ISSN":["2632-1297"],"issn-type":[{"value":"2632-1297","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2023]]},"published":{"date-parts":[[2023]]},"article-number":"fcad227"}}