title: Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
abstract: The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly to previously reported cases, the phenotype of our patients is characterized by delayed milestones, speech disturbance, intellectual disability, abnormal behaviours and a characteristic facial dysmorphism. The common duplicated interval allowed further refinement of the shortest region of overlap to 173 kb, including only one gene, STAG2, which encodes a component of the cohesin complex. We suggest that increased STAG2 gene copy number and dysregulation of its downstream target genes may be responsible for the specific clinical findings of this syndrome. Therefore, the Xq25 microduplication could be considered as a novel cohesinopathy, thus increasing the group of these disorders.
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
authors: C
authors: C
authors: Leroy
authors: Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France.
authors: M-L
authors: ML
authors: Jacquemont
authors: Service de Génétique, Centre Hospitalier Universitaire de La Réunion, Hôpital Félix Guyon, Saint-Denis, France.
authors: B
authors: B
authors: Doray
authors: Fondation Père Favron, CAMSP, Saint-Louis, France.
authors: D
authors: D
authors: Lamblin
authors: Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.|Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
authors: V
authors: V
authors: Cormier-Daire
authors: Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.|Sorbonne Paris Cité, Université Paris Descartes, Paris, France.|Institut IMAGINE, INSERM UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.
authors: A
authors: A
authors: Philippe
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
authors: S
authors: S
authors: Nusbaum
authors: Laboratoire de Biologie De la Reproduction, Groupe Hospitalier Bichat-Claude Bernard, Paris, France.
authors: C
authors: C
authors: Patrat
authors: Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
authors: J
authors: J
authors: Steffann
authors: Sorbonne Paris Cité, Université Paris Descartes, Paris, France.|Institut IMAGINE, INSERM UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.
authors: L
authors: L
authors: Colleaux
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.|Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
authors: M
authors: M
authors: Vekemans
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.|Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
authors: S
authors: S
authors: Romana
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
authors: C
authors: C
authors: Turleau
authors: Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.|Sorbonne Paris Cité, Université Paris Descartes, Paris, France.|Institut IMAGINE, INSERM UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.
authors: V
authors: V
authors: Malan
mesh_terms: D000293:Adolescent; D000328:Adult; D034961:Antigens, Nuclear / Q000235:genetics*; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D018797:Cell Cycle Proteins; D002648:Child; D002675:Child, Preschool; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D004569:Electroencephalography; D019066:Facies; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations; D014314:Trisomy / Q000175:diagnosis* / Q000235:genetics*; D049951:X Chromosome Inactivation; D055815:Young Adult; D000097722:Cohesins
chemical_list: D034961:Antigens, Nuclear; D018797:Cell Cycle Proteins; C508565:STAG2 protein, human; D000097722:Cohesins
keywords: STAG2 gene; Xq25 duplication; cohesion complex; intellectual disability