MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001A01

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

Identifieur interne : 001A01 ( PascalFrancis/Checkpoint ); précédent : 001A00; suivant : 001A02

New 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 Vallee [France] ; Marie-Pierre Lemaitre [France] ; Hélène Bourteel [France] ; Eric Hachulla [France] ; Benoit Wallaert [France] ; Alain Destée [France] ; Luc Defebvre [France] ; Bernard Sablonniere [France]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:07-0090889

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Chorée syndrome, Délétion, Thyroïde, Poumon.

English descriptors

KwdEn :
- Chorea, Deletion, Lung, Nervous system diseases, Thyroid gland.

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.

Affiliations:

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</title>
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<author><name sortKey="Cuvellier, Jean Christophe" sort="Cuvellier, Jean Christophe" uniqKey="Cuvellier J" first="Jean-Christophe" last="Cuvellier">Jean-Christophe Cuvellier</name>
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<author><name sortKey="Lemaitre, Marie Pierre" sort="Lemaitre, Marie Pierre" uniqKey="Lemaitre M" first="Marie-Pierre" last="Lemaitre">Marie-Pierre Lemaitre</name>
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<author><name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name>
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<author><name sortKey="Hachulla, Eric" sort="Hachulla, Eric" uniqKey="Hachulla E" first="Eric" last="Hachulla">Eric Hachulla</name>
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<s3>FRA</s3>
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</inist:fA14>
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<placeName><settlement type="city">Lille</settlement>
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<s2>Lille</s2>
<s3>FRA</s3>
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<sZ>14 aut.</sZ>
</inist:fA14>
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<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 Nord de France</orgName>
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<author><name sortKey="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
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</inist:fA14>
<country>France</country>
<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 Nord de France</orgName>
</affiliation>
</author>
<author><name sortKey="Sablonniere, Bernard" sort="Sablonniere, Bernard" uniqKey="Sablonniere B" first="Bernard" last="Sablonniere">Bernard Sablonniere</name>
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<s2>Lille</s2>
<s3>FRA</s3>
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<sZ>5 aut.</sZ>
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<placeName><settlement type="city">Lille</settlement>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2006">2006</date>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Chorea</term>
<term>Deletion</term>
<term>Lung</term>
<term>Nervous system diseases</term>
<term>Thyroid gland</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
<term>Chorée syndrome</term>
<term>Délétion</term>
<term>Thyroïde</term>
<term>Poumon</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>
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<fA08 i1="01" i2="1" l="ENG"><s1>New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes</s1>
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<fA11 i1="01" i2="1"><s1>DEVOS (David)</s1>
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<fA11 i1="02" i2="1"><s1>VUILLAUME (Isabelle)</s1>
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<fA11 i1="03" i2="1"><s1>DE BECDELIEVRE (Alix)</s1>
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<fA11 i1="04" i2="1"><s1>DE MARTINVILLE (Berengère)</s1>
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<fA11 i1="05" i2="1"><s1>DHAENENS (Claire-Marie)</s1>
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<fA11 i1="06" i2="1"><s1>CUVELLIER (Jean-Christophe)</s1>
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<fA11 i1="07" i2="1"><s1>CUISSET (Jean-Marie)</s1>
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<fA11 i1="08" i2="1"><s1>VALLEE (Louis)</s1>
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<fA11 i1="12" i2="1"><s1>WALLAERT (Benoit)</s1>
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<fA11 i1="13" i2="1"><s1>DESTEE (Alain)</s1>
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<fA11 i1="14" i2="1"><s1>DEFEBVRE (Luc)</s1>
</fA11>
<fA11 i1="15" i2="1"><s1>SABLONNIERE (Bernard)</s1>
</fA11>
<fA14 i1="01"><s1>Department of Neurology, EA 2683 MENRT</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
<sZ>10 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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<fA14 i1="02"><s1>Molecular Biology and Biochemistry Institute, Neurobiology Unit, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
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<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>15 aut.</sZ>
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<fA14 i1="03"><s1>Laboratory of medical genetics. Hôpital J. de Flandres</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>4 aut.</sZ>
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<fA14 i1="04"><s1>Department of Neuropediatrics, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
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<fA14 i1="05"><s1>Department of Internai Medicine, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>11 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Pneumology, Centre Hospitalier et Universitaire, Université de Lille 2</s1>
<s2>Lille</s2>
<s3>FRA</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA20><s1>2237-2240</s1>
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<fA21><s1>2006</s1>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
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<s5>02</s5>
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<s5>09</s5>
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<fC03 i1="05" i2="X" l="FRE"><s0>Poumon</s0>
<s5>10</s5>
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<fC03 i1="05" i2="X" l="SPA"><s0>Pulmón</s0>
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<s5>37</s5>
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<fC07 i1="03" i2="X" l="FRE"><s0>Mouvement involontaire</s0>
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<fC07 i1="03" i2="X" l="ENG"><s0>Involuntary movement</s0>
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<s5>40</s5>
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<fC07 i1="06" i2="X" l="ENG"><s0>Endocrine gland</s0>
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<fC07 i1="06" i2="X" l="SPA"><s0>Glándula endocrina</s0>
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<fC07 i1="07" i2="X" l="FRE"><s0>Appareil respiratoire</s0>
<s5>43</s5>
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<fC07 i1="07" i2="X" l="ENG"><s0>Respiratory system</s0>
<s5>43</s5>
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<fC07 i1="07" i2="X" l="SPA"><s0>Aparato respiratorio</s0>
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<fN21><s1>057</s1>
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<fN44 i1="01"><s1>OTO</s1>
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<fN82><s1>OTO</s1>
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</pA>
</standard>
</inist>
<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>
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<name sortKey="Bourteel, Helene" sort="Bourteel, Helene" uniqKey="Bourteel H" first="Hélène" last="Bourteel">Hélène Bourteel</name>
<name sortKey="Cuisset, Jean Marie" sort="Cuisset, Jean Marie" uniqKey="Cuisset J" first="Jean-Marie" last="Cuisset">Jean-Marie Cuisset</name>
<name sortKey="Cuvellier, Jean Christophe" sort="Cuvellier, Jean Christophe" 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="Destee">Alain Destée</name>
<name sortKey="Dhaenens, Claire Marie" sort="Dhaenens, Claire Marie" 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 Pierre" sort="Lemaitre, Marie Pierre" 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="Sablonniere">Bernard Sablonniere</name>
<name sortKey="Vallee, Louis" sort="Vallee, Louis" uniqKey="Vallee L" first="Louis" last="Vallee">Louis Vallee</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>
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</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes

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