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Genotype-phenotype correlation of 30 Smith-Magenis Syndrome patients using CGH-array: cleft palate in SMS is associated with larger deletions
  1. Joris Andrieux (j-andrieux{at}chru-lille.fr)
  1. Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France
    1. Céline Villenet
    1. Plateforme de Génomique fonctionnelle, Université de Lille II, Lille, France
      1. Sabine Quief
      1. Plateforme de Génomique fonctionnelle, Université de Lille II, Lille, France
        1. Sébastien Lignon
        1. Plateforme de Génomique fonctionnelle, Université de Lille II, Lille, France
          1. Sandrine Geffroy
          1. Laboratoires de Génétique Médicale, Hôpital Jeanne de Flandre, Lille, France
            1. Christophe Roumier
            1. Plateforme de Génomique fonctionnelle, Université de Lille II, Lille, France
              1. Hélène de Leersnyder
              1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                1. Marie-Christine de Blois
                1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                  1. Sylvie Manouvrier
                  1. Service de Génétique Clinique, Hôpital Jeanne de Flandre, Lille, France
                    1. Bruno Delobel
                    1. Centre de Génétique Chromosomique, Université Catholique, Lille, France
                      1. Brigitte Benzacken
                      1. Laboratoire de cytogénétique et Biologie de la Reproduction, Hôpital Jean Verdie, France
                        1. Pierre Bitoun
                        1. Génétique Médicale, Hôpital Jean Verdier, AP-HP, Bondy, France
                          1. Tania Attie-Bitach
                          1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                            1. Sophie Thomas
                            1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                              1. Stanislas Lyonnet
                              1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                                1. Michel Vekemans
                                1. Département de Génétique et INSERM U-393, Hôpital Necker-Enfants Malades,, France
                                  1. Jean-Pierre Kerckaert
                                  1. Plateforme de Génomique fonctionnelle, Université de Lille II, Lille, France

                                    Abstract

                                    Introduction: Smith-Magenis syndrome (SMS) is rare (prevalence 1/25.000) and associates psychomotor delay, a particular behavioral pattern and congenital anomalies. SMS is often due to less than 4 Mb chromosomal deletion at 17p11.2 locus, leading to haploinsufficiency of numerous genes. Mutations of one of them, RAI1, seems to be responsible of main criteria foud in heterozygous 17p11.2 deletion.

                                    Materials and Methods: We studied DNA from 30 SMS patients using a 300 bp-amplimers-CGH-array encompassing 75 loci on the 22 Mb from chromosome 17 short arm.

                                    Results: Three patients showed larger deletions (10%). Genotype-phenotype correlation revealed that two of them had cleft palate beside none of other SMS patients (p<0,007, Fisher's exact test). The smallest cleft palate SMS extra-deleted region of 1,4 Mb contains less than 16 genes and is located at 17p11.2-17p12. Among them, gene expression array data showed that Ubiquitin B precursor (UBB) is significantly expressed in first branchial arch at 4th and 5th of human development.

                                    Conclusion: Therefore, all these data may support UBB as a good candidate gene for isolated cleft palate.

                                    • CGH-array
                                    • Smith-Magenis
                                    • cleft palate

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