New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes
Identifieur interne : 000359 ( France/Analysis ); précédent : 000358; suivant : 000360New 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 [France] ; Alix De Becdelievre [France] ; Berengère De Martinville [France] ; Claire-Marie Dhaenens [France] ; Jean-Christophe Cuvellier [France] ; Jean-Marie Cuisset [France] ; Louis Vallée [France] ; Marie-Pierre Lemaitre [France] ; Hélène Bourteel [France] ; Eric Hachulla [France] ; Benoit Wallaert [France] ; Alain Destée [France] ; Luc Defebvre [France] ; Bernard Sablonnière [France]Source :
- Movement Disorders [ 0885-3185 ] ; 2006-12.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Child, Child, Preschool, Chorea, Chorea (genetics), Chorea (physiopathology), Chromosomes, Human, Pair 14, Deletion, Family Health, Female, Gene Deletion, Humans, In Situ Hybridization, Fluorescence (methods), Lung, Lung Diseases (etiology), Male, Microsatellite Repeats (genetics), Nervous system diseases, Nuclear Proteins (genetics), PAX gene, PAX9 Transcription Factor (genetics), TITF‐1 gene, Thyroid Diseases (etiology), Thyroid gland, Tooth Diseases (etiology), Transcription Factors (genetics), benign hereditary chorea, brain–thyroid–lung syndrome, movement disorders.
- 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. © 2006 Movement Disorder Society
Url:
DOI: 10.1002/mds.21135
Affiliations:
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sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="De Martinville, Berengere" sort="De Martinville, Berengere" uniqKey="De Martinville B" first="Berengère" last="De Martinville">Berengère De Martinville</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of medical genetics, Hôpital J. de Flandres, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" 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sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea><placeName><settlement type="city">Lille</settlement></placeName><placeName><settlement type="city">Lille</settlement><region type="region" nuts="2">Nord-Pas-de-Calais</region></placeName><orgName type="university" n="3">Université Lille 2</orgName><orgName type="institution" wicri:auto="newGroup">Université Lille 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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="2006-12">2006-12</date><biblScope unit="vol">21</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="2237">2237</biblScope><biblScope unit="page" to="2240">2240</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">0657546B6BADA65075C4AB5C9CFCA51004137AD5</idno><idno type="DOI">10.1002/mds.21135</idno><idno type="ArticleID">MDS21135</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Child</term><term>Child, Preschool</term><term>Chorea</term><term>Chorea (genetics)</term><term>Chorea (physiopathology)</term><term>Chromosomes, Human, Pair 14</term><term>Deletion</term><term>Family Health</term><term>Female</term><term>Gene Deletion</term><term>Humans</term><term>In Situ Hybridization, Fluorescence (methods)</term><term>Lung</term><term>Lung Diseases (etiology)</term><term>Male</term><term>Microsatellite Repeats (genetics)</term><term>Nervous system diseases</term><term>Nuclear Proteins (genetics)</term><term>PAX gene</term><term>PAX9 Transcription Factor (genetics)</term><term>TITF‐1 gene</term><term>Thyroid Diseases (etiology)</term><term>Thyroid gland</term><term>Tooth Diseases (etiology)</term><term>Transcription Factors (genetics)</term><term>benign hereditary chorea</term><term>brain–thyroid–lung syndrome</term><term>movement disorders</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><keywords scheme="Pascal" xml:lang="fr"><term>Chorée syndrome</term><term>Délétion</term><term>Poumon</term><term>Système nerveux pathologie</term><term>Thyroïde</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></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. © 2006 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>France</li></country><region><li>Nord-Pas-de-Calais</li></region><settlement><li>Lille</li></settlement><orgName><li>Université Lille 2</li><li>Université Lille Nord de France</li></orgName></list><tree><country name="France"><noRegion><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name></noRegion><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name><name sortKey="Cuisset, Jean Arie" sort="Cuisset, Jean Arie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name><name sortKey="Cuvellier, Jean Hristophe" sort="Cuvellier, Jean Hristophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name><name sortKey="De Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" first="Alix" last="De Becdelievre">Alix De Becdelievre</name><name sortKey="De Martinville, Berengere" sort="De Martinville, Berengere" uniqKey="De Martinville B" first="Berengère" last="De Martinville">Berengère De Martinville</name><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name><name sortKey="Lemaitre, Marie Ierre" sort="Lemaitre, Marie Ierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name><name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallée">Louis Vallée</name><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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