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2q23.1 microdeletion identified by array-CGH: an emerging phenotype with Angelman-like features?
  1. Sylvie Jaillard (sylvie.jaillard{at}chu-rennes.fr)
  1. Cytogénétique Histologie, CHU Rennes, UMR 6061, IFR 140 GFAS, Université de Rennes 1, France
    1. Christele Dubourg (christele.dubourg{at}chu-rennes.fr)
    1. UMR 6061, IFR 140 GFAS, Université de Rennes 1, Génétique Moléculaire, CHU Rennes, France
      1. Marion Gérard-Blanluet (marion.gerard{at}rdb.aphp.fr)
      1. Département de Génétique, INSERM U676, Hôpital Robert Debré, AP-HP, Paris, France
        1. Andrée Delahaye (andree.delahaye{at}jvr.aphp.fr)
        1. Cytogénétique Histologie Embryologie, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France
          1. Laurent Pasquier (laurent.pasquier{at}chu-rennes.fr)
          1. Génétique Médicale, CHU Rennes, UMR 6061, Université de Rennes 1, France
            1. Céline Dupont (celine.dupont{at}jvr.aphp.fr)
            1. Cytogénétique, CHU J Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, Génétique, CHU R Debré, Paris, France
              1. Catherine Henry (catherine.henry{at}chu-rennes.fr)
              1. Cytogénétique Histologie, CHU Rennes, France
                1. Anne-Claude Tabet (anne-claude.tabet{at}rdb.aphp.fr)
                1. Département de Génétique, INSERM U676, Hôpital Robert Debré, AP-HP, Paris, France
                  1. Josette Lucas (josette.lucas{at}chu-rennes.fr)
                  1. Cytogénétique Histologie, CHU Rennes, France
                    1. Azzedine Aboura (azzedine.aboura{at}rdb.aphp.fr)
                    1. Département de Génétique, INSERM U676, Hôpital Robert Debré, AP-HP, Paris, France
                      1. Véronique David (veronique.david{at}univ-rennes1.fr)
                      1. UMR 6061, IFR 140 GFAS, Université de Rennes 1, Génétique Moléculaire, CHU Rennes, France
                        1. Brigitte Benzacken (brigitte.benzacken{at}jvr.aphp.fr)
                        1. Cytogénétique, CHU J Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, Génétique, CHU R Debré, Paris, France
                          1. Sylvie Odent (sylvie.odent{at}chu-rennes.fr)
                          1. Génétique Médicale, CHU Rennes, UMR 6061, Université de Rennes 1, France
                            1. Eva Pipiras (eva.pipiras{at}jvr.aphp.fr)
                            1. Cytogénétique Histologie Embryologie, Hôpital Jean Verdier, Bondy, AP-HP, UFR-USMBH, Paris XIII, France

                              Abstract

                              Background: Genome-wide screening of patients with mental retardation using Array Comparative Genomic Hybridization (array-CGH) has identified several novel imbalances. With this genotype-first approach, the 2q22.3q23.3 deletion was recently described as a novel microdeletion syndrome. We report two unrelated patients with a de novo interstitial deletion mapping in this genomic region and presenting similar “pseudo-Angelman” phenotypes, including severe psychomotor retardation, speech impairment, epilepsy, microcephaly, ataxia and behavioural disabilities.

                              Methods: The microdeletions were identified by array-CGH using oligonucleotide and BAC-arrays, and further confirmed by Fluorescence In Situ Hybridization (FISH) and semi-quantitative PCR.

                              Results: The boundaries and sizes of the deletions in the two patients were different but an overlapping region of about 250 kb was defined, which mapped to 2q23.1 and included two genes: MBD5 and EPC2. The SIP1 gene associated with the Mowat Wilson syndrome was not included in the deleted genomic region.

                              Discussion: Haploinsufficiency of one of the deleted genes (MBD5 or EPC2) could be responsible for the common clinical features observed in the 2q23.1 microdeletion syndrome and this hypothesis needs further investigation.

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