AUTHOR=Bloch-Zupan Agnès , Huckert Mathilde , Stoetzel Corinne , Meyer Julia , Geoffroy Véronique , Razafindrakoto Rabisoa W. , Ralison Saholy N. , Randrianaivo Jean-Claude , Ralison Georgette , Andriamasinoro Rija O. , Ramanampamaharana Rija H. , Randrianazary Solofomanantsoa E. , Ralimanana Louise H. , Richard Béatrice , Gorry Philippe , Manière Marie-Cécile , Rasoamananjara Jeanne A. , Rakoto Alson Simone , Dollfus Hélène TITLE=Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar JOURNAL=Frontiers in Physiology VOLUME=7 YEAR=2016 URL=https://www.frontiersin.org/journals/physiology/articles/10.3389/fphys.2016.00070 DOI=10.3389/fphys.2016.00070 ISSN=1664-042X 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.