Related Experiment Video
Updated: Mar 24, 2026
Digital-Droplet PCR to Detect Indels Mutations in Genetically Modified Anopheline Mosquito Populations
Published on: June 28, 2021
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Agnès Bloch-Zupan1, Mathilde Huckert2, Corinne Stoetzel3
1Faculté 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.
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.
