Metachromatic Leukodystrophy (MLD) is a rare autosomal recessive lysosomal disorder caused by ARSA gene variants, affecting central and peripheral nervous systems. While ARSA variants are reported globally, data from sub-Saharan Africa (SSA) are limited. We report the first SSA case, a Malian patient with a rare phenotype: predominant tonic seizures without typical peripheral neuropathy signs.
View Article and Find Full Text PDFSince its inception in 2003, the African Society of Human Genetics (AfSHG) has been central to the promotion of genetics research on the continent, and facilitated the networking of African researchers within Africa and abroad, thereby significantly contributing to the career development of African geneticists. The continuation of these accomplishments was stimulated by the 12 international conference of AfSHG held jointly with the 1 Congress of the Malian Society of Human Genetics (MSHG) in Bamako, Mali from September 18 to 21 2019. The main theme of the conference was "Human Genetics and Genomics as a Unifying Factor for Harmony and Progress in Africa".
View Article and Find Full Text PDFBackground And Objectives: Developmental and epileptic encephalopathies (DEEs) are a group of neurological disorders characterized by early-onset seizures that are often resistant to treatment, by electroencephalographic abnormalities, and by developmental delay or regression. Their genetic basis remains largely unelucidated, especially in sub-Saharan Africa (SSA). We investigated the genetic bases of DEE in three Malian families.
View Article and Find Full Text PDFBackground: Congenital muscular dystrophies (CMDs) are diverse early-onset conditions affecting skeletal muscle and connective tissue. This group includes collagen VI-related dystrophies such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM), caused by mutations in the COL6A1, COL6A2 and COL6A3 genes. We report a consanguineous Malian family with three siblings affected by UCMD due to a novel homozygous splice site variant in the COL6A1 gene.
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