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Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of sixteen novel patients
  1. Christiane Zweier (czweier{at}humgenet.uni-erlangen.de)
  1. Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany
    1. Heinrich Sticht
    1. Bioinformatics, Institute of Biochemistry, Friedrich-Alexander University Erlangen-Nuremberg, Erlang, Germany
      1. Emilia Bijlsma
      1. Department of Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
        1. Jill Clayton-Smith
        1. Academic Department of Medical Genetics and Regional Genetic Services, St Mary's Hospital, Universit, United Kingdom
          1. Susanne E Boonen
          1. Kennedy Center, National Research Center for Genetics, Visual Impairment and Mental Retardation, Glo, Denmark
            1. Alan Fryer
            1. Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, United Kingdom
              1. Marie T Greally
              1. National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland
                1. Lisbeth Hoffmann
                1. Department of Pediatrics, Naestved Hospital, Naestved, Denmark
                  1. Nicolette S den Hollander
                  1. Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
                    1. Marjolijn Jongmans
                    1. Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands
                      1. Sarina G Kant
                      1. Department of Clinical Genetics, Leiden University Medical Centre, Leiden, Netherlands
                        1. Mary D King
                        1. Department of Pediatric Neurology, Children's University Hospital, Temple Street, Dublin, Republic of Ireland
                          1. Sally A Lynch
                          1. National Centre for Medical Genetics, Our Lady's Hospital for Sick Children, Crumlin, Dublin, Republic of Ireland
                            1. Shane McKee
                            1. Northern Ireland Regional Genetics Centre, Belfast City Hospital Trust, Belfast, United Kingdom
                              1. Alina T Midro
                              1. Department of Clinical Genetics, Medical University Bialystok, Bialystok, Poland
                                1. Soo-Mi Park
                                1. Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, United Kingdom
                                  1. Valeria Ricotti
                                  1. Department of Pediatric Neurology, Children's University Hospital, Temple Street, Dublin, Republic of Ireland
                                    1. Enrico Tarantino
                                    1. Section of Clinical Genetics, Department of Pediatrics, S. Chiara Hospital, Pisa, Italy
                                      1. Marja Wessels
                                      1. Department of Clinical Genetics, Erasmus MC, Rotterdam, Netherlands
                                        1. Maarit Peippo
                                        1. The Department of Medical Genetics, Väestöliitto, Helsinki, Finland
                                          1. Anita Rauch (arauch{at}humgenet.uni-erlangen.de)
                                          1. Institute of Human Genetics, Friedrich-Alexander University Erlangen-Nuremberg, Erlangen, Germany

                                            Abstract

                                            Background: Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome, a so far underdiagnosed mental retardation syndrome characterized by a distinct facial gestalt, breathing anomalies and severe mental retardation.

                                            Methods and results: We performed TCF4 mutational analysis in 117 patients with Pitt-Hopkins syndrome like features and identified 16 novel mutations. All of these proven patients were severely mentally retarded and showed a distinct facial gestalt, 56% had breathing anomalies, 56% had microcephaly, 38% had seizures, and 44% had MRI anomalies.

                                            Conclusion: We further delineate the mutational and clinical spectrum of Pitt-Hopkins syndrome and confirm its important role in the differential diagnosis of severe mental retardation.

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