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.
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页数：4
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