title: New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes.
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.
authors.affiliation: Department of Neurology, EA 2683 MENRT, Lille, France. d-devos@chru-lille.fr
authors.forename: David
authors.initials: D
authors.lastname: Devos
authors.forename: Isabelle
authors.initials: I
authors.lastname: Vuillaume
authors.forename: Alix
authors.initials: A
authors.lastname: de Becdelievre
authors.forename: Berengère
authors.initials: B
authors.lastname: de Martinville
authors.forename: Claire-Marie
authors.initials: CM
authors.lastname: Dhaenens
authors.forename: Jean-Christophe
authors.initials: JC
authors.lastname: Cuvellier
authors.forename: Jean-Marie
authors.initials: JM
authors.lastname: Cuisset
authors.forename: Louis
authors.initials: L
authors.lastname: Vallée
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Lemaitre
authors.forename: Hélène
authors.initials: H
authors.lastname: Bourteel
authors.forename: Eric
authors.initials: E
authors.lastname: Hachulla
authors.forename: Benoit
authors.initials: B
authors.lastname: Wallaert
authors.forename: Alain
authors.initials: A
authors.lastname: Destée
authors.forename: Luc
authors.initials: L
authors.lastname: Defebvre
authors.forename: Bernard
authors.initials: B
authors.lastname: Sablonnière
mesh_terms: D002648:Child; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics* / Q000503:physiopathology; D002883:Chromosomes, Human, Pair 14; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D051764:PAX9 Transcription Factor / Q000235:genetics*; D013959:Thyroid Diseases / Q000209:etiology; D000074482:Thyroid Nuclear Factor 1; D014076:Tooth Diseases / Q000209:etiology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D051764:PAX9 Transcription Factor; C497323:PAX9 protein, human; D000074482:Thyroid Nuclear Factor 1; D014157:Transcription Factors