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GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Yalcouyé, Abdoulaye; Diallo, Seybou H; Cissé, Lassana; Karembé, Mamadou; Diallo, Salimata; Coulibaly, Thomas; Diarra, Salimata; Coulibaly, Dramane; Keita, Mohamed; Guinto, Cheick O; Fischbeck, Kenneth H; Wonkam, Ambroise; Landouré, Guida.
Afiliación
  • Yalcouyé A; Division of Human Genetics, Department of Pathology, University of Cape Town, Cape Town, South Africa.
  • Diallo SH; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
  • Cissé L; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
  • Karembé M; Service de Neurologie, Centre Hospitalier Universitaire Gabriel Touré, Bamako, Mali.
  • Diallo S; Service de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako, Mali.
  • Coulibaly T; Service de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako, Mali.
  • Diarra S; Service de Neurologie, Centre Hospitalier Universitaire Gabriel Touré, Bamako, Mali.
  • Coulibaly D; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
  • Keita M; Service de Neurologie, Centre Hospitalier Universitaire du Point "G", Bamako, Mali.
  • Guinto CO; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
  • Fischbeck KH; Neurogenetics Branch, National Institutes of Neurological Disorders and Stroke, Bethesda, Maryland, USA.
  • Wonkam A; Service de Médecine, Centre Hospitalier Universitaire Mère-Enfant le "Luxembourg", Bamako, Mali.
  • Landouré G; Faculté de Médecine et d'Odontostomatologie, USTTB, Bamako, Mali.
J Peripher Nerv Syst ; 27(2): 113-119, 2022 06.
Article en En | MEDLINE | ID: mdl-35383424
X-linked Charcot-Marie-Tooth type 1 (CMTX1) disease is one of the most common subtypes of inherited neuropathies and is caused by mutations in the GJB1 gene. To date, more than 400 mutations have been reported in GJB1 worldwide but none in sub-Saharan 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 PMP22 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-linked. 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-familial clinical variability was observed. Genetic testing found three pathogenic missense variants in GJB1, 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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Conexinas Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Africa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Conexinas Tipo de estudio: Prognostic_studies Límite: Humans País/Región como asunto: Africa Idioma: En Revista: J Peripher Nerv Syst Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Estados Unidos