Genetic analysis of the CHCHD2 gene in a cohort of Chinese patients with Parkinson disease

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Article

Wu, Hongwei¹  Lu, Xingjiao²  Xie, Fei³  Cen, Zhidong¹  Zheng, Xiaosheng¹  Luo, Wei¹ 

[1] Zhejiang Univ, Sch Med, Affiliated Hosp 2, Dept Neurol, 88 Jiefang Rd, Hangzhou 310009, Zhejiang, Peoples R China

[2] Zhejiang Hosp, Dept Neurol, 12 Lingyin Rd, Hangzhou 3100013, Zhejiang, Peoples R China

[3] Zhejiang Univ, Sch Med, Sir Run Run Shaw Hosp, Dept Neurol, 3 East Qingchun Rd, Hangzhou 310016, Zhejiang, Peoples R China

关键词: Parkinson disease;    Autosomal dominant Parkinson disease;    CHCHD2;    Chinese population;   

DOI  :  10.1016/j.neulet.2016.06.054

来源: Elsevier

【 摘 要 】

CHCHD2 has been recently reported as a causative gene for autosomal dominant Parkinson disease (ADPD) in Japanese populations. Further genetic studies of CHCHD2 in other populations are needed. Herein, we sequenced CHCHD2 gene in 162 patients (90 from ADPD pedigrees, 72 with sporadic Parkinson disease) and 90 healthy controls in Chinese population. We observed 5 exonic variants (c.-34C>A, c.-9T>G, c.5C>T, c.*125G>A, c.*154A>G) including 1 novel variant. No pathogenic mutation was found, suggesting that CHCHD2 mutations may be rare in Chinese ADPD patients. (C) 2016 Elsevier Ireland Ltd. All rights reserved.

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