A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
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DOI：
10.1038/s41439-018-0015-9
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发表时间：
2018
影响因子：
1.5
通讯作者：
Saitsu H
中科院分区：
文献类型：
--
作者：
Araya N;Takahashi Y;Shimono M;Fukuda T;Kato M;Nakashima M;Matsumoto N;Saitsu H
我们报告的情况下，两个兄弟姐妹进行性肌阵挛癫痫的父母不是血亲。他们的临床症状是典型的Lafora病（LD），但皮肤活检显示没有Lafora小体。全外显子组测序确定了一个经常性的纯合子移码变异NHLRC 1基因在两个兄弟姐妹。遗传学分析对LD的诊断是有用的，因为既没有发现血缘关系，也没有发现Lafora体。
We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified a recurrent homozygous frameshift variant in the NHLRC1 gene in both siblings. The genetic analysis was useful for the diagnosis of LD, as neither consanguinity nor Lafora bodies were found.