title: Whole ARX gene duplication is compatible with normal intellectual development.
abstract: We report here on four males from three families carrying de novo or inherited small Xp22.13 duplications including the ARX gene detected by chromosomal microarray analysis (CMA). Two of these males had normal intelligence. Our report suggests that, unlike other XLMR genes like MECP2 and FMR1, the presence of an extra copy of the ARX gene may not be sufficient to perturb its developmental functions. ARX duplication does not inevitably have detrimental effects on brain development, in contrast with the effects of ARX haploinsufficiency. The abnormal phenotype ascribed to the presence of an extra copy in some male patients may have resulted from the effect of another, not yet identified, chromosomal or molecular anomaly, alone or in association with ARX duplication.
authors.affiliation: APHM, Hôpital Timone-Enfants, Département de Génétique Médicale, Marseille, France; Aix-Marseille Université, Inserm, GMGF UMR_S 910, Marseille, France.
authors.forename: Cornel
authors.initials: C
authors.lastname: Popovici
authors.forename: Tiffany
authors.initials: T
authors.lastname: Busa
authors.forename: Odile
authors.initials: O
authors.lastname: Boute
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
authors.forename: Odile
authors.initials: O
authors.lastname: Perret
authors.forename: Sabine
authors.initials: S
authors.lastname: Sigaudy
authors.forename: Tommy
authors.initials: T
authors.lastname: Södergren
authors.forename: Joris
authors.initials: J
authors.lastname: Andrieux
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Nicole
authors.initials: N
authors.lastname: Philip
mesh_terms: D000328:Adult; D002648:Child; D002657:Child Development; D002675:Child, Preschool; D005260:Female; D020440:Gene Duplication; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007360:Intelligence / Q000235:genetics*; D008297:Male; D011247:Pregnancy; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors
keywords: ARX; Xp22.13 duplication; chromosomal microarray analysis