title: Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
abstract: We screened 165 mentally retarded patients for ARX gene 428-451 base pair (bp) duplication. Eighteen individuals from five families were found to carry the duplication, and all had intellectual impairment. Twelve presented with focal hand dystonia, while six patients had EEG abnormalities including seizures. Other symptoms included speech difficulties (4/18), testis enlargement (4/18), lower limb spasticity or foot dystonia (4/18), and facial telangiectasia (3/18). These features confirm the pleiotropic effect of the duplication.
authors.affiliation: Department of Medical Genetics, National Institute of Mother and Child, Kasprzaka 17A St, 01-211 Warsaw, Poland. kszczaluba@imid.med.pl
authors.forename: K
authors.initials: K
authors.lastname: Szczaluba
authors.forename: M
authors.initials: M
authors.lastname: Nawara
authors.forename: K
authors.initials: K
authors.lastname: Poirier
authors.forename: J
authors.initials: J
authors.lastname: Pilch
authors.forename: M
authors.initials: M
authors.lastname: Gajdulewicz
authors.forename: K
authors.initials: K
authors.lastname: Spodar
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: J
authors.initials: J
authors.lastname: Bal
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D020440:Gene Duplication; D005820:Genetic Testing / Q000379:methods / Q000706:statistics & numerical data; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors