A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.
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DOI：
10.1002/acn3.402
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发表时间：
2017-04
影响因子：
5.3
通讯作者：
Landouré G
中科院分区：
文献类型：
--
作者：
Guinto CO;Diarra S;Diallo S;Cissé L;Coulibaly T;Diallo SH;Taméga A;Chen KL;Schindler AB;Bagayoko K;Simaga A;Blackstone C;Fischbeck KH;Landouré G
遗传性痉挛性截瘫（HSP）是一种特征明确的疾病，但在非洲很少报告。我们评估了一个马里家庭，其中三个人有HSP和远端肌肉萎缩和感觉丧失。HSP组检测鉴定了KIF5A中的一种新的杂合错义突变（c.1086G>C，p.Lys362Asn），该突变与疾病分离（SPG10）。Lys362在物种间是高度保守的，并且Lys362Asn被预测是破坏性的。这项研究表明，热休克蛋白存在于撒哈拉以南非洲，尽管可能诊断不足。DNA测序效率的提高和成本的降低将使发展中国家的HSP诊断更加可行。
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.