New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
Identifieur interne : 001900 ( Ncbi/Checkpoint ); précédent : 001899; suivant : 001901New 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 [France] ; Luc Defebvre [France] ; 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
Affiliations:
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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" 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Becdelievre, Alix" sort="De Becdelievre, Alix" uniqKey="De Becdelievre A" 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><affiliation><country>France</country><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="Defebvre, Luc" sort="Defebvre, Luc" uniqKey="Defebvre L" first="Luc" last="Defebvre">Luc Defebvre</name><affiliation><country>France</country><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="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><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><noCountry><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="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="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></noCountry><country name="France"><noRegion><name sortKey="Devos, David" sort="Devos, David" uniqKey="Devos D" first="David" last="Devos">David Devos</name></noRegion><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></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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