HS1‐BP3 gene variant is common in familial essential tremor
Identifieur interne : 001D65 ( Main/Corpus ); précédent : 001D64; suivant : 001D66HS1‐BP3 gene variant is common in familial essential tremor
Auteurs : Joseph J. Higgins ; Roni Q. Lombardi ; Joanna Pucilowska ; Joseph Jankovic ; Lawrence I. Golbe ; Leo VerhagenSource :
- 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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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><istex><corpusName>wiley</corpusName><author><json:item><name>Joseph J. Higgins MD</name><affiliations><json:string>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</json:string></affiliations></json:item><json:item><name>Roni Q. 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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</abstract><qualityIndicators><score>5.96</score><pdfVersion>1.3</pdfVersion><pdfPageSize>594 x 792 pts</pdfPageSize><refBibsNative>true</refBibsNative><keywordCount>8</keywordCount><abstractCharCount>1556</abstractCharCount><pdfWordCount>2960</pdfWordCount><pdfCharCount>17936</pdfCharCount><pdfPageCount>4</pdfPageCount><abstractWordCount>250</abstractWordCount></qualityIndicators><title>HS1‐BP3 gene variant is common in familial essential tremor</title><genre><json:string>article</json:string></genre><host><volume>21</volume><publisherId><json:string>MDS</json:string></publisherId><pages><total>4</total><last>309</last><first>306</first></pages><issn><json:string>0885-3185</json:string></issn><issue>3</issue><subject><json:item><value>Research Article</value></json:item></subject><genre><json:string>Journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1531-8257</json:string></eissn><title>Movement Disorders</title><doi><json:string>10.1002/(ISSN)1531-8257</json:string></doi></host><publicationDate>2006</publicationDate><copyrightDate>2006</copyrightDate><doi><json:string>10.1002/mds.20692</json:string></doi><id>2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</id><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><p>WILEY</p></availability><date>2006</date></publicationStmt><notesStmt><note>National Institute of Neurological Disorders and Stroke - No. R01 NS39353;</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">HS1‐BP3 gene variant is common in familial essential tremor</title><author><persName><forename type="first">Joseph J.</forename><surname>Higgins</surname></persName><roleName type="degree">MD</roleName><note type="correspondence"><p>Correspondence: Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561</p></note><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation></author><author><persName><forename type="first">Roni Q.</forename><surname>Lombardi</surname></persName><roleName type="degree">BS</roleName><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation></author><author><persName><forename type="first">Joanna</forename><surname>Pucilowska</surname></persName><roleName type="degree">MS</roleName><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation></author><author><persName><forename type="first">Joseph</forename><surname>Jankovic</surname></persName><roleName type="degree">MD</roleName><affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</affiliation></author><author><persName><forename type="first">Lawrence I.</forename><surname>Golbe</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</affiliation></author><author><persName><forename type="first">Leo</forename><surname>Verhagen</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA</affiliation></author></analytic><monogr><title level="j">Movement Disorders</title><title level="j" type="abbrev">Mov. Disord.</title><idno type="pISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><idno type="DOI">10.1002/(ISSN)1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="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></monogr><idno type="istex">2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</idno><idno type="DOI">10.1002/mds.20692</idno><idno type="ArticleID">MDS20692</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>essential tremor</term></item><item><term>chromosomes</term></item><item><term>human</term></item><item><term>pair 2</term></item><item><term>mutation</term></item><item><term>missense</term></item><item><term>14‐3‐3 proteins</term></item><item><term>Parkinson disease</term></item></list></keywords></textClass><textClass><keywords scheme="Journal Subject"><list><head>article category</head><item><term>Research Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2005-02-15">Received</change><change when="2005-06-12">Registration</change><change when="2006-03">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1531-8257</doi><issn type="print">0885-3185</issn><issn type="electronic">1531-8257</issn><idGroup><id type="product" value="MDS"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="MOVEMENT DISORDERS">Movement Disorders</title><title type="short">Mov. 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xml:id="kwd6">missense</keyword><keyword xml:id="kwd7">14‐3‐3 proteins</keyword><keyword xml:id="kwd8">Parkinson disease</keyword></keywordGroup><fundingInfo><fundingAgency>National Institute of Neurological Disorders and Stroke</fundingAgency><fundingNumber>R01 NS39353</fundingNumber></fundingInfo><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>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 <i>hematopoietic‐specific protein 1 binding protein 3</i> gene (<i>HS1‐BP3</i>) 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 <i>HS1‐BP3</i> gene by a <i>Bse</i>YI 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 <i>HS1‐BP3</i> gene occurs relatively frequently in subjects with ET. The variant may also be found in some individuals with PD and postural tremor. The <i>HS1‐BP3</i> 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</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>HS1‐BP3 gene variant is common in familial essential tremor</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>HS1‐BP3 Gene Variant is Common in Familial ET</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>gene variant is common in familial essential tremor</title></titleInfo><name type="personal"><namePart type="given">Joseph J.</namePart><namePart type="family">Higgins</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation><description>Correspondence: Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, 279 Main Street, Suite 203A, New Paltz, NY 12561</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Roni Q.</namePart><namePart type="family">Lombardi</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joanna</namePart><namePart type="family">Pucilowska</namePart><namePart type="termsOfAddress">MS</namePart><affiliation>Center for Human Genetics and Child Neurology, Mid‐Hudson Family Health Institute, New Paltz, New York, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Joseph</namePart><namePart type="family">Jankovic</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Lawrence I.</namePart><namePart type="family">Golbe</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University of Medicine and Dentistry of New Jersey Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Leo</namePart><namePart type="family">Verhagen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurological Sciences, Rush University Medical Center, Chicago, Illinois, USA</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-03</dateIssued><dateCaptured encoding="w3cdtf">2005-02-15</dateCaptured><dateValid encoding="w3cdtf">2005-06-12</dateValid><copyrightDate encoding="w3cdtf">2006</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="figures">1</extent><extent unit="tables">2</extent><extent unit="references">39</extent><extent unit="words">3299</extent></physicalDescription><abstract 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</abstract><note type="funding">National Institute of Neurological Disorders and Stroke - No. R01 NS39353; </note><subject lang="en"><genre>Keywords</genre><topic>essential tremor</topic><topic>chromosomes</topic><topic>human</topic><topic>pair 2</topic><topic>mutation</topic><topic>missense</topic><topic>14‐3‐3 proteins</topic><topic>Parkinson disease</topic></subject><relatedItem type="host"><titleInfo><title>Movement Disorders</title></titleInfo><titleInfo type="abbreviated"><title>Mov. Disord.</title></titleInfo><genre type="Journal">journal</genre><subject><genre>article category</genre><topic>Research Article</topic></subject><identifier type="ISSN">0885-3185</identifier><identifier type="eISSN">1531-8257</identifier><identifier type="DOI">10.1002/(ISSN)1531-8257</identifier><identifier type="PublisherID">MDS</identifier><part><date>2006</date><detail type="volume"><caption>vol.</caption><number>21</number></detail><detail type="issue"><caption>no.</caption><number>3</number></detail><extent unit="pages"><start>306</start><end>309</end><total>4</total></extent></part></relatedItem><identifier type="istex">2F1ECB244DA464434C3E2C9A3E4688C31F02E4C3</identifier><identifier type="DOI">10.1002/mds.20692</identifier><identifier type="ArticleID">MDS20692</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 Movement Disorder Society</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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