Evaluating the role of TMEM230 variants in Parkinson's disease

Recently, mutations in TMEM230 were reported as a novel cause of autosomal dominant Parkinson's disease (PD) [1]. In a large Mennonite family with Lewy-body-confirmed PD, a missense mutation (p.R141L) was found in all 13 tested patients [1]. Further screening of >1400 PD patients from North America and China revealed three additional mutations (p.Y92C, p.*184Wext*5, p.*184PGext*5) in 11 patients including a recurrent mutation in 9/574 Chinese patients [1]. The authors excluded these mutations in a large series of their own controls (n > 1500) by Sanger sequencing and in exome data of ∼10,000 Chinese neurologically normal controls and of >60,000 individuals of the Exome Aggregation Consortium (ExAC).