Genetic analysis of the CHCHD2 gene in Chinese patients with familial essential tremor

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.