AUTHOR=Pu Jia-Li , Gao Ting , Si Xiao-Li , Zheng Ran , Jin Chong-Yao , Ruan Yang , Fang Yi , Chen Ying , Song Zhe , Yin Xin-Zhen , Yan Ya-Ping , Tian Jun , Zhang Bao-Rong 

TITLE=Parkinson’s Disease in Teneurin Transmembrane Protein 4 (TENM4) Mutation Carriers

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2020

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.598064

DOI=10.3389/fgene.2020.598064

ISSN=1664-8021

ABSTRACT=<sec><title>Introduction</title><p>Mutations in the teneurin transmembrane protein 4 (<italic>TENM4</italic>) gene, known to be involved in neuropsychiatric disorders, have been identified in three pedigree of essential tremor (ET) from Spain. ET has overlapping clinical manifestations and epidemiological symptoms with Parkinson’s disease (PD), suggesting these two disorders may reflect common genetic risk factors. In this study, we investigated clinical and genetic manifestations in four unrelated pedigrees with both ET and PD in which <italic>TENM4</italic> variants were identified.</p></sec><sec><title>Methods</title><p>We subsequently explored whether <italic>TENM4</italic> variants contributed to the risk of developing PD. The frequency of <italic>TENM4</italic> variants was evaluated from four PD pedigrees and other 407 subjects.</p></sec><sec><title>Results</title><p>The results revealed 12 different novel heterozygous variants, all at low frequency. A clear general enrichment of <italic>TENM4</italic> variants was detected in early onset PD patients (<italic>p</italic> &lt; 0.001, OR = 5.264, 95% CI = 1.957–14.158).</p></sec><sec><title>Conclusion</title><p>The results indicate that rare <italic>TENM4</italic> variants may be associated with an increased risk of PD.</p></sec>