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Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population
Movement disorders, 2017-02, Vol.32 (2), p.292-295
Houle, Gabrielle
Schmouth, Jean‐François
Leblond, Claire S.
Ambalavanan, Amirthagowri
Spiegelman, Dan
Laurent, Sandra B.
Bourassa, Cynthia V.
Panisset, Michel
Chouinard, Sylvain
Dupré, Nicolas
Vilariño‐Güell, Carles
Rajput, Alex
Dion, Patrick A.
Rouleau, Guy A.
2017
Volltextzugriff (PDF)
Details
Autor(en) / Beteiligte
Houle, Gabrielle
Schmouth, Jean‐François
Leblond, Claire S.
Ambalavanan, Amirthagowri
Spiegelman, Dan
Laurent, Sandra B.
Bourassa, Cynthia V.
Panisset, Michel
Chouinard, Sylvain
Dupré, Nicolas
Vilariño‐Güell, Carles
Rajput, Alex
Dion, Patrick A.
Rouleau, Guy A.
Titel
Teneurin transmembrane protein 4 is not a cause for essential tremor in a Canadian population
Ist Teil von
Movement disorders, 2017-02, Vol.32 (2), p.292-295
Ort / Verlag
United States: Wiley Subscription Services, Inc
Erscheinungsjahr
2017
Quelle
Access via Wiley Online Library
Beschreibungen/Notizen
ABSTRACT Introduction Mutations 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. Methods The 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. Results A 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. Conclusions Our results do not support a positive association between teneurin transmembrane protein 4 and the Canadian population. © 2017 International Parkinson and Movement Disorder Society
Sprache
Englisch
Identifikatoren
ISSN: 0885-3185
eISSN: 1531-8257
DOI: 10.1002/mds.26753
Titel-ID: cdi_proquest_miscellaneous_1877835572
Format
–
Schlagworte
Aged
,
Canada - epidemiology
,
Essential tremor
,
Essential Tremor - epidemiology
,
Essential Tremor - genetics
,
Female
,
Genes
,
genetic association
,
Humans
,
Male
,
Membrane Glycoproteins - genetics
,
Middle Aged
,
Movement disorders
,
Mutation
,
Proteins
,
sequencing
,
TENM4
,
variations burden
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