New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes
Identifieur interne : 002F34 ( Istex/Curation ); précédent : 002F33; suivant : 002F35New 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.
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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
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DOI: 10.1002/mds.21135
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Lille</wicri:regionArea></affiliation></author><author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name><affiliation wicri:level="1"><mods:affiliation>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation 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year="2006">2006</date><idno type="doi">10.1002/mds.21135</idno><idno type="url">https://api.istex.fr/document/0657546B6BADA65075C4AB5C9CFCA51004137AD5/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F34</idno><idno type="wicri:Area/Istex/Curation">002F34</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">New syndromic form of benign hereditary chorea is associated with a deletion of TITF‐1 and PAX‐9 contiguous genes</title><author><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Vuillaume, Isabelle" sort="Vuillaume, Isabelle" uniqKey="Vuillaume I" first="Isabelle" last="Vuillaume">Isabelle Vuillaume</name><affiliation wicri:level="1"><mods:affiliation>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><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></affiliation></author><author><name 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"><mods:affiliation>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><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></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"><mods:affiliation>Laboratory of medical genetics, Hôpital J. de Flandres, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Laboratory of medical genetics, Hôpital J. de Flandres, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Dhaenens, Claire Arie" sort="Dhaenens, Claire Arie" uniqKey="Dhaenens C" first="Claire-Marie" last="Dhaenens">Claire-Marie Dhaenens</name><affiliation wicri:level="1"><mods:affiliation>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><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></affiliation></author><author><name sortKey="Cuvellier, Jean Hristophe" sort="Cuvellier, Jean Hristophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Cuisset, Jean Arie" sort="Cuisset, Jean Arie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallée">Louis Vallée</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Lemaitre, Marie Ierre" sort="Lemaitre, Marie Ierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name><affiliation wicri:level="1"><mods:affiliation>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name><affiliation wicri:level="1"><mods:affiliation>Department of Internal Medicine, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Internal Medicine, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Wallaert, Benoit" sort="Wallaert, Benoit" uniqKey="Wallaert B" first="Benoit" last="Wallaert">Benoit Wallaert</name><affiliation wicri:level="1"><mods:affiliation>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Destee, Alain" sort="Destee, Alain" uniqKey="Destee A" first="Alain" last="Destée">Alain Destée</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation wicri:level="1"><mods:affiliation>Department of Neurology, EA 2683 MENRT, Lille, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Neurology, EA 2683 MENRT, Lille</wicri:regionArea></affiliation></author><author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonnière">Bernard Sablonnière</name><affiliation wicri:level="1"><mods:affiliation>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2, Lille, France</mods:affiliation><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></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</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="2006-12">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>PAX gene</term><term>TITF‐1 gene</term><term>benign hereditary chorea</term><term>brain–thyroid–lung syndrome</term><term>movement disorders</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></record>Pour manipuler ce document sous Unix (Dilib)
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