title: Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
abstract: A large family from a small village in Madagascar, Antanetilava, is known to present with colored teeth. Through previous collaboration and 4 successive visits in 1994, 2004, 2005, and 2012, we provided dental care to the inhabitants and diagnosed dentinogenesis imperfecta. Recently, using whole exome sequencing we confirmed the clinical diagnosis by identifying a novel single nucleotide deletion in exon 5 of DSPP. This paper underlines the necessity of long run research, the importance of international and interpersonal collaborations as well as the major contribution of next generation sequencing tools in the genetic diagnosis of rare oro-dental anomalies. This study is registered in ClinicalTrials (https://clinicaltrials.gov) under the number NCT02397824.
authors.affiliation: Faculté de Chirurgie Dentaire, Université de StrasbourgStrasbourg, France; Centre de Référence des Manifestations Odontologiques des Maladies Rares, Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-dentaires Hôpital CivilStrasbourg, France; Centre National de la Recherche Scientifique-UMR7104, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U 964, Université de StrasbourgIllkirch, France.
authors.forename: Agnès
authors.initials: A
authors.lastname: Bloch-Zupan
authors.affiliation: Faculté de Chirurgie Dentaire, Université de StrasbourgStrasbourg, France; Laboratoire de Génétique Médicale, Faculté de Médecine, Institut National de la Santé et de la Recherche Médicale U 1112, Université de StrasbourgStrasbourg, France.
authors.forename: Mathilde
authors.initials: M
authors.lastname: Huckert
authors.affiliation: Laboratoire de Génétique Médicale, Faculté de Médecine, Institut National de la Santé et de la Recherche Médicale U 1112, Université de Strasbourg Strasbourg, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Stoetzel
authors.affiliation: Faculté de Chirurgie Dentaire, Université de Strasbourg Strasbourg, France.
authors.forename: Julia
authors.initials: J
authors.lastname: Meyer
authors.affiliation: Laboratoire de Génétique Médicale, Faculté de Médecine, Institut National de la Santé et de la Recherche Médicale U 1112, Université de Strasbourg Strasbourg, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Geoffroy
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Rabisoa W
authors.initials: RW
authors.lastname: Razafindrakoto
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Saholy N
authors.initials: SN
authors.lastname: Ralison
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Randrianaivo
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Georgette
authors.initials: G
authors.lastname: Ralison
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Rija O
authors.initials: RO
authors.lastname: Andriamasinoro
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Rija H
authors.initials: RH
authors.lastname: Ramanampamaharana
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Solofomanantsoa E
authors.initials: SE
authors.lastname: Randrianazary
authors.affiliation: UFR Odontologie de Lyon, Université Claude Bernard Lyon, France.
authors.forename: Béatrice
authors.initials: B
authors.lastname: Richard
authors.affiliation: Research Unit of Theoretical & Applied Economics, GREThA (UMR Centre National de la Recherche Scientifique 5113), Université de Bordeaux Pessac, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Gorry
authors.affiliation: Faculté de Chirurgie Dentaire, Université de StrasbourgStrasbourg, France; Centre de Référence des Manifestations Odontologiques des Maladies Rares, Hôpitaux Universitaires de Strasbourg, Pôle de Médecine et Chirurgie Bucco-dentaires Hôpital CivilStrasbourg, France.
authors.forename: Marie-Cécile
authors.initials: MC
authors.lastname: Manière
authors.affiliation: Institut d'Odonto-Stomatologie Tropicale de Madagascar, Université de Mahajanga Mahajanga, Madagascar.
authors.forename: Simone
authors.initials: S
authors.lastname: Rakoto Alson
authors.affiliation: Laboratoire de Génétique Médicale, Faculté de Médecine, Institut National de la Santé et de la Recherche Médicale U 1112, Université de Strasbourg Strasbourg, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
keywords: NGS; dental anomalies; dentin; dentinogenesis imperfecta; human; mutations; rare disease