Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Identifieur interne : 000077 ( Main/Merge ); précédent : 000076; suivant : 000078Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?
Auteurs : Pedro Gonzalez [États-Unis] ; Jorge Di [États-Unis] ; Kai Wang [États-Unis] ; Shay Fabbro [États-Unis] ; Hung Yu [États-Unis] ; Tamim Shaikh [États-Unis] ; Benjamin Darbro [États-Unis] ; Alexander Bassuk [États-Unis]Source :
- Tremor and Other Hyperkinetic Movements ; 2014.
Abstract
Essential tremor is a common movement disorder with a strong heritable component. Large families with inherited forms of essential tremor have undergone genetic analyses by different approaches. However, our knowledge of genetic variants unequivocally linked to essential tremor is remarkably limited. Several explanations have been put forth to explain this challenge, including the possibility of mutations in non-coding areas of the genome.
We encountered a family with highly penetrant, autosomal dominant tremor. We hypothesized that, if a single coding gene mutation was responsible for the phenotype, novel genetic tools would allow us to identify it. We employed single nucleotide polymorphism (SNP) arrays in 17 members of this family followed by next generation whole-exome sequencing in five affected subjects.
We did not identify any copy number variant or mutation that segregated with the disease phenotype.
This study emphasizes the remarkably challenging field of tremor genetics and indicates that future studies should perhaps shift to analysis of the non-coding genome.
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DOI: 10.7916/D8FB51G3
PubMed: 25374765
PubMed Central: 4219111
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sort="Fabbro, Shay" uniqKey="Fabbro S" first="Shay" last="Fabbro">Shay Fabbro</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Yu, Hung Chun" sort="Yu, Hung Chun" uniqKey="Yu H" first="Hung" last="Yu">Hung Yu</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region 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type="wicri:Area/Main/Merge">000077</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Evaluating Familial Essential Tremor with Novel Genetic Approaches: Is it a Genotyping or Phenotyping Issue?</title><author><name sortKey="Gonzalez Alegre, Pedro" sort="Gonzalez Alegre, Pedro" uniqKey="Gonzalez Alegre P" first="Pedro" last="Gonzalez">Pedro Gonzalez</name><affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation></author><author><name sortKey="Di Paola, Jorge" sort="Di Paola, Jorge" uniqKey="Di Paola J" first="Jorge" last="Di">Jorge Di</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Wang, Kai" sort="Wang, Kai" uniqKey="Wang K" first="Kai" last="Wang">Kai Wang</name><affiliation wicri:level="4"><nlm:aff id="aff3"><addr-line>Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Biostatistics, College of Public Health, University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation></author><author><name sortKey="Fabbro, Shay" sort="Fabbro, Shay" uniqKey="Fabbro S" first="Shay" last="Fabbro">Shay Fabbro</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Yu, Hung Chun" sort="Yu, Hung Chun" uniqKey="Yu H" first="Hung" last="Yu">Hung Yu</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Shaikh, Tamim H" sort="Shaikh, Tamim H" uniqKey="Shaikh T" first="Tamim" last="Shaikh">Tamim Shaikh</name><affiliation wicri:level="2"><nlm:aff id="aff2"><addr-line>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO</wicri:regionArea><placeName><region type="state">Colorado</region></placeName></affiliation></author><author><name sortKey="Darbro, Benjamin W" sort="Darbro, Benjamin W" uniqKey="Darbro B" first="Benjamin" last="Darbro">Benjamin Darbro</name><affiliation wicri:level="4"><nlm:aff id="aff4"><addr-line>Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation></author><author><name sortKey="Bassuk, Alexander G" sort="Bassuk, Alexander G" uniqKey="Bassuk A" first="Alexander" last="Bassuk">Alexander Bassuk</name><affiliation wicri:level="4"><nlm:aff id="aff1"><addr-line>Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, Carver College of Medicine, University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation><affiliation wicri:level="4"><nlm:aff id="aff4"><addr-line>Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA</addr-line></nlm:aff><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA</wicri:regionArea><placeName><region type="state">Iowa</region></placeName><orgName type="university">Université de l'Iowa</orgName></affiliation></author></analytic><series><title level="j">Tremor and Other Hyperkinetic Movements</title><idno type="e-ISSN">2160-8288</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Essential tremor is a common movement disorder with a strong heritable component. Large families with inherited forms of essential tremor have undergone genetic analyses by different approaches. However, our knowledge of genetic variants unequivocally linked to essential tremor is remarkably limited. Several explanations have been put forth to explain this challenge, including the possibility of mutations in non-coding areas of the genome.</p></sec><sec><title>Methods</title><p>We encountered a family with highly penetrant, autosomal dominant tremor. We hypothesized that, if a single coding gene mutation was responsible for the phenotype, novel genetic tools would allow us to identify it. We employed single nucleotide polymorphism (SNP) arrays in 17 members of this family followed by next generation whole-exome sequencing in five affected subjects.</p></sec><sec><title>Results</title><p>We did not identify any copy number variant or mutation that segregated with the disease phenotype.</p></sec><sec><title>Discussion</title><p>This study emphasizes the remarkably challenging field of tremor genetics and indicates that future studies should perhaps shift to analysis of the non-coding genome.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Louis, Ed" uniqKey="Louis E">ED Louis</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jasinska 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