TMEM230 mutation analysis in Parkinson's disease in a Chinese population.

Mutations in TMEM230 were identified as a genetic factor for Parkinson's disease (PD) with typical clinical symptoms and Lewy bodies in a North American population, and a highly prevalent TMEM230 mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5), was found in 7 Chinese families. In the present study, we investigated the prevalence of TMEM230 mutations in a large cohort of Chinese PD patients and healthy controls individuals from mainland China. We sequenced all exons and exon–intron boundaries of TMEM230 in Chinese Han population including 1235 patients with PD and 1252 healthy control individuals. As a result, we did not detect any pathogenic mutation of TMEM230 in 192 probands with familial PD or 1043 sporadic PD patients. However, we did detect a synonymous variant c.357G>A p.Gly119Gly in a case of familial PD and the 3′ UTR+3G>T variant in 2 sporadic PD patients. These results suggested that TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients. [ABSTRACT FROM AUTHOR]