Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

作者：Bloch Zupan Agnes^*; Huckert Mathilde; Stoetzel Corinne; Meyer Julia; Geoffroy Veronique; Razafindrakoto Rabisoa W; Ralison Saholy N; Randrianaivo Jean Claude; Ralison Georgette; Andriamasinoro Rija O; Ramanampamaharana Rija H; Randrianazary Solofomanantsoa E; Richards Beatrice; Gorry Philippe; Maniere Marie Cecile; Alson Simone Rakoto; Dollfus Helene

来源：Frontiers in Physiology, 2016, 7: 70.

DOI：10.3389/fphys.2016.00070

• rare disease
• dentinogenesis imperfecta
• dental anomalies
• dentin
• mutations
• NGS
• human

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.

• 出版日期2016-3-2