Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
Sudden unexpected death with rare compound heterozygous variants in PRICKLE1
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DOI：
10.1007/s10048-018-0562-8
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发表时间：
2019-03-01
期刊：
影响因子：
2.2
通讯作者：
Nishida, Naoki
中科院分区：
文献类型：
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作者：
Hata, Yukiko;Yoshida, Koji;Nishida, Naoki
进行性肌阵挛癫痫共济失调综合征 (EPM5) 是一种常染色体隐性遗传形式的进行性肌阵挛癫痫，与 PRICKLE1 的纯合错义突变有关。我们报道了一名 23 岁男性，他在难治性惊厥和呼吸衰竭后不久死亡。尸检显示单侧海马畸形，没有明显的神经元丢失或神经胶质增生。使用下一代测序针对癫痫和心脏病进行的基因分析揭示了 PRICKLE1 的两种变体。进一步的调查显示，患者的父亲 (p.Asp760del) 和母亲 (p.Asp201Asn) 均存在该基因突变。本病例表明EPM5也可由复合杂合突变引起。
Progressive myoclonus epilepsy-ataxia syndrome (EPM5) is an autosomal recessive form of progressive myoclonus epilepsy that has been associated with a homozygous missense mutation in PRICKLE1. We report a 23-year-old male who died shortly after refractory convulsion and respiratory failure. Autopsy showed unilateral hippocampal malformation without significant neuronal loss or gliosis. Genetic analysis that targeted both epilepsy and cardiac disease using next-generation sequencing revealed two variants of PRICKLE1. Additional investigation showed that the patient's father (p.Asp760del) and mother (p.Asp201Asn) each had a mutation in this gene. The present case shows that EPM5 can also be caused by compound heterozygous mutations.