Wu Hongwei, Lu Xingjiao, Cen Zhidong, Xie Fei, Zheng Xiaosheng, Chen You, Luo Wei
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China.
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, 88 Jiefang Road, Hangzhou, Zhejiang Province 310009, China; Department of Neurology, Zhejiang Hospital, 12 Lingyin Road, Hangzhou, Zhejiang Province 3100013, China.
Neurosci Lett. 2016 Nov 10;634:104-106. doi: 10.1016/j.neulet.2016.10.005. Epub 2016 Oct 4.
Recently, Funayama et al. identified CHCHD2 as a novel causative gene of Parkinson disease (PD). However, the relationship between CHCHD2 and essential tremor (ET) patients was still unknown. Genetic analysis of CHCHD2 gene was conducted in 60 probands of ET families with autosomal dominant inheritance and 90 healthy controls in Chinese population. No pathogenic CHCHD2 mutation was found in ET patients. However, we identified one rare variant, c.5C>T, a reported risk variant for sporadic PD in Japanese populations, and examined the frequency of three common variants. Our results suggested that CHCHD2 mutations may be rare in Chinese familial ET patients.
最近，船山等人将CHCHD2鉴定为帕金森病（PD）的一种新的致病基因。然而，CHCHD2与特发性震颤（ET）患者之间的关系仍不清楚。对60名常染色体显性遗传的ET家族先证者和90名中国健康对照者进行了CHCHD2基因的遗传分析。在ET患者中未发现致病性CHCHD2突变。然而，我们鉴定出一种罕见变异c.5C>T，这是一种在日本人群中报道的散发性PD风险变异，并检测了三种常见变异的频率。我们的结果表明，CHCHD2突变在中国家族性ET患者中可能很少见。
