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Neurobiol Aging. 2017 Oct;58:239.e9-239.e10. doi: 10.1016/j.neurobiolaging.2017.06.011. Epub 2017 Jun 24.

Screening for TMEM230 mutations in young-onset Parkinson's disease.

Author information

Neurology, Singapore General Hospital, Singapore.
Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore; Human Genetics, Genome Institute of Singapore, A*STAR, Singapore.
Department of Clinical Research, Singapore General Hospital, Singapore.
Human Genetics, Genome Institute of Singapore, A*STAR, Singapore.
Neurology, Singapore General Hospital, Singapore; Neurology, National Neuroscience Institute of Singapore, Singapore; Duke NUS Graduate Medical School, Singapore. Electronic address:


TMEM230 gene mutations have been reported to be linked with Parkinson's disease (PD) recently. To investigate the prevalence of this gene in southeastern Chinese patients with PD, whole exome sequencing was performed in young-onset and familial PD patients and healthy controls in our Asian population. One heterozygous missense p.Phe121Ser mutation was detected in a healthy 76-year-old control subject and no other TMEM230 mutations were found in PD patients and controls. These data suggest that TMEM230 mutation might be a rare cause of Chinese familial and sporadic PD patients and a larger sample size will be needed to evaluate the association of TMEM230 polymorphic variants with PD.


Mutation screening; Parkinson's disease; TMEM230; Whole exome sequencing

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