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The C20orf133 gene is disrupted in a patient with Kabuki syndrome
  1. Nicole Maas, Dr. (nicole.maas{at}gen.unimaas.nl)
  1. University of Leuven, Leuven, Belgium, Belgium
    1. Tom Van de Putte (tom.vandeputte{at}med.kuleuven.be)
    1. University of Leuven and VIB11, Leuven, Belgium, Belgium
      1. Cindy Melotte (cindy.melotte{at}uz.kuleuven.ac.be)
      1. University of Leuven, Leuven, Belgium, Belgium
        1. Annick Francis (annick.francis{at}med.kuleuven.be)
        1. University of Leuven and VIB11, Leuven, Belgium, Belgium
          1. Constance TRM Schrander-Stumpel (connie.schrander{at}gen.unimaas.nl)
          1. Academic hospital Maastricht and Research Institute GROW, Maastricht, the Netherlands, Netherlands
            1. Damien Sanlaville
            1. Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France, France
              1. David Genevieve
              1. Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France, France
                1. Stanislas Lyonnet
                1. Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France, France
                  1. Boyan Dimitrov (boyan.dimitrov{at}med.kuleuven.be)
                  1. University of Leuven, Leuven, Belgium, Belgium
                    1. Koenraad Devriendt (koen.devriendt{at}med.kuleuven.be)
                    1. University of Leuven, Leuven, Belgium, Belgium
                      1. Jean-Pierre Fryns (jean-pierre.fryns{at}med.kuleuven.be)
                      1. University of Leuven, Leuven, Belgium, Belgium
                        1. Joris Vermeesch (joris.vermeesch{at}med.kuleuven.be)
                        1. University of Leuven, Leuven, Belgium, Belgium

                          Abstract

                          Introduction: The Kabuki syndrome (KS) is a rare clinically recognizable congenital mental retardation syndrome. The aetiology of KS remains unknown.

                          Methods: Four carefully selected KS patients were screened for chromosomal imbalances using array comparative genomic hybridisation (CGH) at 1 Mb resolution. Mutation analysis of C10orf133, a candidate gene, was performed in 19 Kabuki patients and expression analysis of candidate gene was performed during mice development.

                          Results: In one patient, a 250 kb de novo microdeletion at 20p12.1 was detected, deleting exon 5 of C20orf133. The function of this gene is unknown. In situ hybridization with the mouse orthologue of C20orf133 showed expression mainly in brain, but also in kidney, eye, inner ear, ganglia of the peripheral nervous system and lung.

                          Discussion: The de novo nature of the deletion, the expression data and the fact that C20orf133 carries a macro domain, suggesting a role for the gene in chromatin biology, make the gene a likely candidate to cause the phenotype in this patient with KS. Both the finding of different of chromosomal rearrangements in patients with KS features and the absence of C20orf133 mutations in 19 additional KS patients suggest that KS is genetically heterogeneous.

                          • C20orf133
                          • FLRT3
                          • Kabuki syndrome
                          • array CGH
                          • microdeletion

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