Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population.

MOVEMENT DISORDERS(2017)

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摘要
IntroductionMutations in teneurin transmembrane protein 4 were reported to be a risk factor for essential tremor, but the relevance of this across different population remains to be examined. The aim of this study was to determine the frequency and spectrum of variations in teneurin transmembrane protein 4 in a cohort of Canadian essential tremor cases. MethodsThe coding portion of teneurin transmembrane protein 4 was sequenced in 269 unrelated essential tremor cases and 288 matched control individuals using a targeted and high-throughput sequencing approach. ResultsA total of 157 single nucleotide variations were identified, and from these 99 were a missense or nonsense mutation. A total of 68 cases were carriers of 1 rare missense or nonsense mutations, and 39 control individuals were carriers of the same types of variations. Gene-based association tests were used to jointly analyze the single nucleotide variations. ConclusionsOur results do not support a positive association between teneurin transmembrane protein 4 and the Canadian population. (c) 2017 International Parkinson and Movement Disorder Society
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关键词
Essential tremor,TENM4,sequencing,genetic association,variations burden
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