HS1‐BP3 gene variant is common in familial essential tremor
Identifieur interne : 001289 ( Main/Exploration ); précédent : 001288; suivant : 001290HS1‐BP3 gene variant is common in familial essential tremor
Auteurs : Joseph J. Higgins [États-Unis] ; Roni Q. Lombardi [États-Unis] ; Joanna Pucilowska [États-Unis] ; Joseph Jankovic [États-Unis] ; Lawrence I. Golbe [États-Unis] ; Leo Verhagen [États-Unis]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-03.
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Abstract
Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic‐specific protein 1 binding protein 3 gene (HS1‐BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1‐BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild‐type allele. The 828C→G genetic variant in the HS1‐BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1‐BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. © 2005 Movement Disorder Society
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DOI: 10.1002/mds.20692
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Higgins</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. 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Golbe</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey</wicri:regionArea><placeName><region type="state">New Jersey</region></placeName></affiliation></author><author><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois</wicri:regionArea><placeName><region type="state">Illinois</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-03">2006-03</date><biblScope unit="volume">21</biblScope><biblScope unit="issue">3</biblScope><biblScope unit="page" from="306">306</biblScope><biblScope unit="page" to="309">309</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno><idno type="DOI">10.1002/mds.20692</idno><idno type="ArticleID">MDS20692</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>14‐3‐3 proteins</term><term>Parkinson disease</term><term>chromosomes</term><term>essential tremor</term><term>human</term><term>missense</term><term>mutation</term><term>pair 2</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Essential tremor (ET) is a movement disorder characterized by a postural or kinetic tremor of the hands, head, or voice. It is typically a familial condition and affects 1% to 4% of the general population. The trait is genetically linked to chromosome 2p in some families. A variant (828C→G) in exon 7 of the hematopoietic‐specific protein 1 binding protein 3 gene (HS1‐BP3) on chromosome 2p recently has been found to segregate with ET in 2 families. To determine the frequency of this variant in a larger series, we studied patients with ET, Parkinson disease (PD), and controls without tremor. Affected singletons representing 73 families from the United States with dominantly inherited ET, 35 individuals with PD, and 304 healthy controls older than age 60 were tested for the 828C→G variant in exon 7 of the HS1‐BP3 gene by a BseYI restriction enzyme digest of the polymerase chain reaction product. Heterozygous carriers of the mutant allele were identified in 12 individuals with ET (16.4%) and in 1 individual with PD and postural tremor (3%). All of the healthy controls (608 chromosomes) were homozygous for the wild‐type allele. The 828C→G genetic variant in the HS1‐BP3 gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The HS1‐BP3 gene plays a putative role in regulating catecholamine and serotonin metabolism, but the functional consequences of the amino acid substitution (A265G) caused by this genetic variant is unknown. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>États-Unis</li></country><region><li>Illinois</li><li>New Jersey</li><li>Texas</li><li>État de New York</li></region><settlement><li>Houston</li></settlement><orgName><li>Baylor College of Medicine</li></orgName></list><tree><country name="États-Unis"><region name="État de New York"><name sortKey="Higgins, Joseph J" sort="Higgins, Joseph J" uniqKey="Higgins J" first="Joseph J." last="Higgins">Joseph J. Higgins</name></region><name sortKey="Golbe, Lawrence I" sort="Golbe, Lawrence I" uniqKey="Golbe L" first="Lawrence I." last="Golbe">Lawrence I. Golbe</name><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name><name sortKey="Lombardi, Roni Q" sort="Lombardi, Roni Q" uniqKey="Lombardi R" first="Roni Q." last="Lombardi">Roni Q. Lombardi</name><name sortKey="Pucilowska, Joanna" sort="Pucilowska, Joanna" uniqKey="Pucilowska J" first="Joanna" last="Pucilowska">Joanna Pucilowska</name><name sortKey="Verhagen, Leo" sort="Verhagen, Leo" uniqKey="Verhagen L" first="Leo" last="Verhagen">Leo Verhagen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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