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To date, more than 400 mutations have been reported in <jats:italic>GJB1<\/jats:italic> worldwide but none in sub\u2010Saharan Africa (SSA). We aimed to clinically characterize patients with CMTX1 and identify the genetic defects. All patients were examined thoroughly, and Nerve Conduction Studies (NCS) were done. EEG and pure tone audiometry (PTA) were also done in select individuals having additional symptoms. DNA was extracted for CMT gene panel testing (50 genes + mtDNA and <jats:italic>PMP22<\/jats:italic> duplication), and putative variants were screened in available relatives. The predominant starting symptom was tingling, and the chief complaint was gait difficulty. Neurological examination found a distal muscle weakness and atrophy, and sensory loss, skeletal deformities, decreased or absent reflexes and steppage gait. The inheritance pattern was consistent with dominant X\u2010linked. NCS showed no response in most of the tested nerves in lower limbs, and normal or reduced amplitudes in upper limbs. A severe sensorineural hearing impairment and a focal epileptic seizure were observed in one patient each. A high intra and inter\u2010familial clinical variability was observed. Genetic testing found three pathogenic missense variants in <jats:italic>GJB1<\/jats:italic>, one in each of the families (Val91Met, Arg15Trp, and Phe235Cys). This is the first report of genetically confirmed cases of CMTX1 in SSA, and confirms its clinical and genetic heterogeneity.<\/jats:p>","DOI":"10.1111\/jns.12486","type":"journal-article","created":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T08:32:11Z","timestamp":1649147531000},"page":"113-119","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp><i>GJB1<\/i><\/scp> variants in <scp>Charcot\u2010Marie\u2010Tooth<\/scp> disease X\u2010linked type 1 in Mali"],"prefix":"10.1111","volume":"27","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4279-7380","authenticated-orcid":false,"given":"Abdoulaye","family":"Yalcouy\u00e9","sequence":"first","affiliation":[{"name":"Division of Human Genetics, Department of Pathology University of Cape Town  Cape Town South Africa"},{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seybou H.","family":"Diallo","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire Gabriel Tour\u00e9  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lassana","family":"Ciss\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamadou","family":"Karemb\u00e9","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salimata","family":"Diallo","sequence":"additional","affiliation":[{"name":"Service de Neurologie, Centre Hospitalier Universitaire Gabriel Tour\u00e9  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Coulibaly","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salimata","family":"Diarra","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"},{"name":"Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke  Bethesda Maryland USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dramane","family":"Coulibaly","sequence":"additional","affiliation":[{"name":"Service de M\u00e9decine, Centre Hospitalier Universitaire M\u00e8re\u2010Enfant le \"Luxembourg\"  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed","family":"Keita","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"},{"name":"Service d'ORL, Centre Hospitalier Universitaire Gabriel Tour\u00e9  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cheick O.","family":"Guinto","sequence":"additional","affiliation":[{"name":"Facult\u00e9 de M\u00e9decine et d'Odontostomatologie, USTTB  Bamako Mali"},{"name":"Service de Neurologie, Centre Hospitalier Universitaire du Point \u201cG\u201d  Bamako Mali"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth H.","family":"Fischbeck","sequence":"additional","affiliation":[{"name":"Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke  Bethesda Maryland 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