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An exploration of the genetics of the mutant Huntingtin (mHtt) gene in a cohort of patients with chorea from different ethnic groups in sub-Saharan Africa.

Mendi J MuthinjaCarlos Othon GuelngarMaouly FallFatumah JamaHuda Aldeen ShujaJamila NambafuDaniel Gams MassiOluwadamilola O OjoNjideka U OkubadejoFunmilola Tolulope TaiwoAlassane Mamadou DiopCoudjou J D G de ChacusFodé Abass CisséAmara CisséJuzar HookerDilraj SokhiHenry HouldenMie Rizig
Published in: Annals of human genetics (2024)
This is the first study examining HD in multiple sites in sub-Saharan Africa. We demonstrated that HD is found in multiple ethnic groups residing in five sub-Saharan African countries including the first genetically confirmed HD cases from Guinea and Kenya. The prevalence of HD in the African continent, its associated socio-economic impact, and genetic origins need further exploration and reappraisal.
Keyphrases
  • genome wide
  • copy number
  • gene expression
  • transcription factor
  • genome wide identification