New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
Identifieur interne : 002A39 ( PubMed/Curation ); précédent : 002A38; suivant : 002A40New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
Auteurs : David Devos [France] ; Isabelle Vuillaume ; Alix De Becdelievre ; Berengère De Martinville ; Claire-Marie Dhaenens ; Jean-Christophe Cuvellier ; Jean-Marie Cuisset ; Louis Vallée ; Marie-Pierre Lemaitre ; Hélène Bourteel ; Eric Hachulla ; Benoit Wallaert ; Alain Destée ; Luc Defebvre ; Bernard SablonnièreSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2006.
English descriptors
- KwdEn :
- Child, Child, Preschool, Chorea (genetics), Chorea (physiopathology), Chromosomes, Human, Pair 14, Family Health, Female, Gene Deletion, Humans, In Situ Hybridization, Fluorescence (methods), Lung Diseases (etiology), Male, Microsatellite Repeats (genetics), Nuclear Proteins (genetics), PAX9 Transcription Factor (genetics), Thyroid Diseases (etiology), Tooth Diseases (etiology), Transcription Factors (genetics).
- MESH :
- chemical , genetics : Nuclear Proteins, PAX9 Transcription Factor, Transcription Factors.
- etiology : Lung Diseases, Thyroid Diseases, Tooth Diseases.
- genetics : Chorea, Microsatellite Repeats.
- methods : In Situ Hybridization, Fluorescence.
- physiopathology : Chorea.
- Child, Child, Preschool, Chromosomes, Human, Pair 14, Family Health, Female, Gene Deletion, Humans, Male.
Abstract
Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.
DOI: 10.1002/mds.21135
PubMed: 17044090
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first="Alix" last="De Becdelievre">Alix De Becdelievre</name></author><author><name sortKey="De Martinville, Berengere" sort="De Martinville, Berengere" uniqKey="De Martinville B" first="Berengère" last="De Martinville">Berengère De Martinville</name></author><author><name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name></author><author><name sortKey="Cuvellier, Jean Christophe" sort="Cuvellier, Jean Christophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name></author><author><name sortKey="Cuisset, Jean Marie" sort="Cuisset, Jean Marie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name></author><author><name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallée">Louis Vallée</name></author><author><name sortKey="Lemaitre, Marie Pierre" sort="Lemaitre, Marie Pierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name></author><author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name></author><author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name></author><author><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2006" type="published">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Chorea (genetics)</term><term>Chorea (physiopathology)</term><term>Chromosomes, Human, Pair 14</term><term>Family Health</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>In Situ Hybridization, Fluorescence (methods)</term><term>Lung Diseases (etiology)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Nuclear Proteins (genetics)</term><term>PAX9 Transcription Factor (genetics)</term><term>Thyroid Diseases (etiology)</term><term>Tooth Diseases (etiology)</term><term>Transcription Factors (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Nuclear Proteins</term><term>PAX9 Transcription Factor</term><term>Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lung Diseases</term><term>Thyroid Diseases</term><term>Tooth Diseases</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chorea</term><term>Microsatellite Repeats</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>In Situ Hybridization, Fluorescence</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Chorea</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Chromosomes, Human, Pair 14</term><term>Family Health</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">17044090</PMID><DateCreated><Year>2006</Year><Month>12</Month><Day>27</Day></DateCreated><DateCompleted><Year>2007</Year><Month>02</Month><Day>20</Day></DateCompleted><DateRevised><Year>2007</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>21</Volume><Issue>12</Issue><PubDate><Year>2006</Year><Month>Dec</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.</ArticleTitle><Pagination><MedlinePgn>2237-40</MedlinePgn></Pagination><Abstract><AbstractText>Benign hereditary chorea is a rare autosomal dominant disorder presenting with a childhood-onset and slowly progressive chorea. The objective of this study was to describe the clinical and genetic features of 3 patients who developed childhood-onset chorea. Three affected patients from three generations of a family with benign hereditary chorea associated with a multisystemic disorder of the basal ganglia, thyroid, lungs, salivary glands, bowels, and teeth. The TITF-1 gene was screened by microsatellite analysis, gene sequencing, and fluorescence in situ hybridization. Genetic analysis revealed a novel 0.9-Mb deletion on chromosome 14, which includes the TITF-1 and PAX9 genes. We have identified a novel deletion responsible for a new syndrome of benign hereditary chorea, including symptoms of brain-thyroid-lung syndrome associated with bowels, salivary glands, and teeth disorders. Associated signs, sometimes of slight expression, remain of high interest for the clinical and genetic diagnosis of benign hereditary chorea.</AbstractText><CopyrightInformation>Copyright 2006 Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Devos</LastName><ForeName>David</ForeName><Initials>D</Initials><AffiliationInfo><Affiliation>Department of Neurology, EA 2683 MENRT, Lille, France. d-devos@chru-lille.fr</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Vuillaume</LastName><ForeName>Isabelle</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>de Becdelievre</LastName><ForeName>Alix</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>de Martinville</LastName><ForeName>Berengère</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Dhaenens</LastName><ForeName>Claire-Marie</ForeName><Initials>CM</Initials></Author><Author ValidYN="Y"><LastName>Cuvellier</LastName><ForeName>Jean-Christophe</ForeName><Initials>JC</Initials></Author><Author ValidYN="Y"><LastName>Cuisset</LastName><ForeName>Jean-Marie</ForeName><Initials>JM</Initials></Author><Author ValidYN="Y"><LastName>Vallée</LastName><ForeName>Louis</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Lemaitre</LastName><ForeName>Marie-Pierre</ForeName><Initials>MP</Initials></Author><Author ValidYN="Y"><LastName>Bourteel</LastName><ForeName>Hélène</ForeName><Initials>H</Initials></Author><Author ValidYN="Y"><LastName>Hachulla</LastName><ForeName>Eric</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Wallaert</LastName><ForeName>Benoit</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Destée</LastName><ForeName>Alain</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Defebvre</LastName><ForeName>Luc</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Sablonnière</LastName><ForeName>Bernard</ForeName><Initials>B</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D009687">Nuclear Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051764">PAX9 Transcription Factor</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C497323">PAX9 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D014157">Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C066173">thyroid nuclear factor 1</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002648">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002675">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002819">Chorea</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000503">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D002883">Chromosomes, Human, Pair 14</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D005192">Family Health</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017353">Gene Deletion</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D017404">In Situ Hybridization, Fluorescence</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000379">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008171">Lung Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018895">Microsatellite Repeats</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009687">Nuclear Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D051764">PAX9 Transcription Factor</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013959">Thyroid Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014076">Tooth Diseases</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000209">etiology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D014157">Transcription Factors</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>10</Month><Day>18</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>2</Month><Day>21</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>10</Month><Day>18</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="doi">10.1002/mds.21135</ArticleId><ArticleId IdType="pubmed">17044090</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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