Annals of clinical and translational neurology · 2017
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
СтатьяНазвание и аннотация: Перевод пока не подготовлен
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Guinto Cheick O, Diarra Salimata, Diallo Salimata, Cissé Lassana, Coulibaly Thomas, Diallo Seybou H, Taméga Abdoulaye, Chen Ke-Lian, Schindler Alice B, Bagayoko Koumba, Simaga Assiatou, Blackstone Craig, Fischbeck Kenneth H, Landouré Guida
Аннотация
Hereditary spastic paraplegias (HSPs) are well-characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub-Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries.