title: A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome.
abstract: Kohlschütter-Tönz Syndrome (KTZS) is an autosomal recessive disorder caused by mutations in the ROGDI gene. This syndrome is characterized by epilepsy, psychomotor regression and amelogenesis imperfecta. In this paper, we report a case of a 13-year-old Malian girl presenting with this rare disease. By genetic analysis, we identified a novel ROGDI homozygous mutation NM_024589.1: c.117+1G>T [Chr16 (GRCh37): g.4852382C>A] which confirmed the diagnosis of Kohlschütter-Tönz syndrome. The mutation abolishes the usual splice donor site of intron 2 which leads to the deletion of exon 2 and in-frame assembly of exon 3. Exon 2 encodes a highly conserved leucine-rich region that is essential for ROGDI protein function. Hence, this deletion may affect the function of the ROGDI protein.
authors.affiliation: Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France ; Laboratoire de Génétique Médicale, INSERM UMR_S 1112, Strasbourg Medical School, UdS, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Huckert
authors.affiliation: Centre de Référence des Maladies Neuromusculaires d'Origine Génétique de l'Enfant et l'Adulte, Hôpital de Hautepierre, HUS, France.
authors.forename: Helen
authors.initials: H
authors.lastname: Mecili
authors.affiliation: Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), UMR 7104 and INSERM U964, UdS, Illkirch, France.
authors.forename: Virginie
authors.initials: V
authors.lastname: Laugel-Haushalter
authors.affiliation: Laboratoire de Génétique Médicale, INSERM UMR_S 1112, Strasbourg Medical School, UdS, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.affiliation: Laboratoire de Diagnostic Génétique, HUS, France ; ICube UMR 7357, UdS, CNRS, LBGI, France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), UMR 7104 and INSERM U964, UdS, Illkirch, France.
authors.forename: Jean
authors.initials: J
authors.lastname: Muller
authors.affiliation: Laboratoire de Cytogénétique, Cytologie et Histologie Quantitative, Hôpital de Hautepierre, HUS, Strasbourg, France.
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Flori
authors.affiliation: Centre de Référence des Maladies Neuromusculaires d'Origine Génétique de l'Enfant et l'Adulte, Hôpital de Hautepierre, HUS, France.
authors.forename: Vincent
authors.initials: V
authors.lastname: Laugel
authors.affiliation: Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France.
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Manière
authors.affiliation: Laboratoire de Génétique Médicale, INSERM UMR_S 1112, Strasbourg Medical School, UdS, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.affiliation: Faculty of Dentistry, University of Strasbourg (UdS), France ; Reference Center for Orodental Manifestations of Rare Diseases, Pôle de Médecine et Chirurgie Bucco-dentaires, Hôpital Civil, Hôpitaux Universitaires de Strasbourg (HUS), France ; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), UMR 7104 and INSERM U964, UdS, Illkirch, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Bloch-Zupan
keywords: Amelogenesis imperfecta; Epilepsy; Kohlschütter-Tönz syndrome; Leucine zipper domain; Mutations; ROGDI