A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss
نویسندگان
چکیده
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.
منابع مشابه
SPG10 is a rare cause of spastic paraplegia in European families.
BACKGROUND SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE To determine the frequency of SPG10 in European families with HSP and to specify the SPG10 phenotype. PATIENTS AND...
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عنوان ژورنال:
دوره 4 شماره
صفحات -
تاریخ انتشار 2017