Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy |
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| Authors: | C. Leroy M.‐L. Jacquemont B. Doray D. Lamblin V. Cormier‐Daire A. Philippe S. Nusbaum C. Patrat J. Steffann L. Colleaux M. Vekemans S. Romana C. Turleau V. Malan |
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| Affiliation: | 1. Service de Cytogénétique, H?pital Necker‐Enfants Malades, Paris, France;2. Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint‐Pierre, France;3. Service de Génétique, Centre Hospitalier Universitaire de La Réunion, H?pital Félix Guyon, Saint‐Denis, France;4. Fondation Père Favron, CAMSP, Saint‐Louis, France;5. Service de Génétique, H?pital Necker‐Enfants Malades, Paris, France;6. Sorbonne Paris Cité, Université Paris Descartes, Paris, France;7. Institut IMAGINE, INSERM UMR_S1163, H?pital Necker‐Enfants Malades, Paris, France;8. Laboratoire de Biologie De la Reproduction, Groupe Hospitalier Bichat‐Claude Bernard, Paris, France |
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| 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. |
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| Keywords: | STAG2 gene cohesion complex Xq25 duplication intellectual disability |
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