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A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

2017; Wiley; Volume: 4; Issue: 4 Linguagem: Inglês

10.1002/acn3.402

2328-9503

Cheick O. Guinto, Salimata Diarra, Salimata Diallo, Lassana Cissé, Thomas Coulibaly, Seybou Hassane Diallo, Abdoulaye Taméga, Ke‐Lian Chen, Alice B. Schindler, Koumba Bagayoko, Assiatou Simaga, Craig Blackstone, Kenneth H. Fischbeck, Guida Landouré,

Lysosomal Storage Disorders Research

Abstract Hereditary spastic paraplegias ( HSP s) 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 KIF 5A (c.1086G>C, p.Lys362Asn) that segregated with the disease ( SPG 10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSP s are present in sub‐Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSP s in developing countries.