A recurrent homozygous NHLRC1 variant in siblings with Lafora disease

被引：8

作者：

Araya, Nami ^{[1
]}

Takahashi, Yukitoshi ^{[1
]}

Shimono, Masayuki ^{[2
]}

Fukuda, Tomofumi ^{[2
]}

Kato, Mitsuhiro ^{[3
]}

Nakashima, Mitsuko ^{[4
]}

Matsumoto, Naomichi ^{[4
]}

Saitsu, Hirotomo ^{[5
]}

机构：

[1] NHO, Shizuoka Inst Epilepsy & Neurol Disorders, Natl Epilepsy Ctr, Shizuoka, Japan

[2] Univ Occupat & Environm Hlth, Sch Med, Dept Pediat, Fukuoka, Japan

[3] Showa Univ, Sch Med, Dept Pediat, Tokyo, Japan

[4] Yokohama City Univ, Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan

[5] Hamamatsu Univ Sch Med, Dept Biochem, Hamamatsu, Shizuoka, Japan

来源：

HUMAN GENOME VARIATION | 2018年 / 5卷

基金：

日本学术振兴会;

关键词：

D O I：

10.1038/s41439-018-0015-9

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页数：4

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