TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson's Disease.

Mutations in the gene encoding the transmembrane protein 230 (TMEM230) have been reported in patients with familial, autosomal dominant inherited Parkinson's disease (ADPD). The aim of the present study was to explore the role and the prevalence of TMEM230 mutations in Chinese patients with ADPD. A cohort of 120 patients with ADPD and 650 healthy controls (HCs) from the Department of Neurology, West China Hospital of Sichuan University was screened. The entire coding exons of TREM230 in all the patients, as well as exon 5 of this gene in the 650 HCs, were directly sequenced with the Sanger sequencing approach. Novel identified mutations or variants of Parkinson's disease were tested in all HCs in the corresponding chromosomal regions. Two novel variants of the TMEM230 gene were identified. The c.46G>T [p. Gly16Trp] variant in exon 1 was identified in a male PD patient, while a heterozygous frameshift variant, c.429delT [p. Val143ValfsX4], in exon 5 was found in an HC. However, the most commonly reported mutation, p.*184ProGlyext*5, was not detected in either the patients or control subjects in this study. Our findings suggested that TMEM230 mutations are very rare in the ADPD Han Chinese population. Further evaluation of genetic data from a larger sample population is required to understand the genetic role of TMEM230 in the etiology of PD.