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

•CHCHD2 mutations may be rare in Chinese ADPD patients.•The result will stimulate researches about pathogenic role of the CHCHD2 gene.•The association of CHCHD2 mutations in PD needs to be assessed in more samples and other studies. 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.