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



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.



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.



Our results do not support a positive association between teneurin transmembrane protein 4 and the Canadian population. © 2017 International Parkinson and Movement Disorder Society.
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Gabrielle
G
Houle
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Jean-François
JF
Schmouth
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Claire S
CS
Leblond
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Human Genetics, McGill University, Montreal, Quebec, Canada.
Amirthagowri
A
Ambalavanan
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Dan
D
Spiegelman
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Sandra B
SB
Laurent
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.
Cynthia V
CV
Bourassa
Centre Hospitalier Universitaire de Montréal (CHUM)-Notre-Dame, André Barbeau Movement Disorders Unit, Montreal, Quebec, Canada.
Michel
M
Panisset
Centre Hospitalier Universitaire de Montréal (CHUM)-Notre-Dame, André Barbeau Movement Disorders Unit, Montreal, Quebec, Canada.
Sylvain
S
Chouinard
Department of Medicine, Faculty of Medicine, Laval University, Quebec City, Quebec, Canada.|Département des Sciences Neurologiques, CHU de Québec (Enfant-Jésus), Quebec City, Quebec, Canada.
Nicolas
N
Dupré
Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
Carles
C
Vilariño-Güell
Division of Neurology, Saskatchewan Movement Disorders Program, University of Saskatchewan, Saskatoon Health Region, Saskatoon, Saskatchewan, Canada.
Alex
A
Rajput
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Human Genetics, McGill University, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Patrick A
PA
Dion
Montreal Neurological Institute and Hospital, Montreal, Quebec, Canada.|Department of Human Genetics, McGill University, Montreal, Quebec, Canada.|Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.
Guy A
GA
Rouleau
D000368:Aged; D002170:Canada / Q000453:epidemiology; D020329:Essential Tremor / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged
D008562:Membrane Glycoproteins; C576539:TENM4 protein, human
Essential tremor; TENM4; genetic association; sequencing; variations burden