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Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes

2016 / English – Journal of Dental Research – Research Reports: Clinical

 

M.K. Prasad, S. Laouina, M. El Alloussi, H. Dollfus and A. Bloch-Zupan

 

Abstract
“Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. This study highlights the phenotypic and genotypic heterogeneity of AI that can exist even within a single consanguineous family. Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis.”

24 août 2016|Articles scientifiques|

The spectrum of orofacial manifestations in systemic sclerosis: a challenging management

2016 / English – Oral Diseases 2017; 23: 424-439

 

Jung S, Martin T, Schmittbuhl M, Huck O.

 

“Systemic sclerosis (SSc) is a rare multisystem connective tissue disorder characterized by the triad fibrosis, vasculopathy and immune dysregulation. This chronic disease has a significant impact on the orofacial region that is involved in more than two-thirds of the cases. SSc patients can show a wide array of oral manifestations, which are usually associated with a severe impairment of the quality of life. They often present a decreased the salivary flow and a reduced mouth opening that contribute substantially to the worsening of the oral health status. Therefore, SSc patients require specific and multidisciplinary interventions that should be initiated as early as possible. The identification of specific radiological and clinical signs at the early stage will improve the management of such patients. This study reviews the wide spectrum of orofacial manifestations associated with SSc and suggests clues for the oral management that remains challenging.”

8 juillet 2016|Articles scientifiques|

ODONTO – Le chemin thérapeutique de patients atteints de maladies rares

Quand l’un des membres d’une famille est atteint d’une maladie rare qui va se manifester au niveau de la bouche et des dents, un parcours se met en place non seulement en matière de soins mais aussi au quotidien pour faire face à la situation, aux difficultés rencontrées.

S’il n’existe pas de parcours type, chaque étape étant singulière et en fonction de chaque malade, voici des repères utiles pour mieux comprendre la prise en charge d’une affection bucco-dentaire rare : cet article est un résumé des démarches, en complément d’une fiche illustrée pour la France (valable au-delà) et des entretiens avec François Clauss de Strasbourg et Anna Wolff d’Heidelberg.

2 juillet 2016|Equipe, Gestion du projet|

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

March 2016 / English – Journal Frontiers in Physiology – Craniofacial Biology and Dental Research

 

Agnès Bloch-Zupan*, Mathilde Huckert, Corinne Stoetzel, Julia Meyer, Véronique Geoffroy, Rabisoa W. Razafindrakoto, Saholy N. Ralison, Jean-Claude Randrianaivo, Georgette Ralison, Rija O. Andriamasinoro, Rija H. Ramanampamaharana, Solofomanantsoa E. Randrianazary, Louise H. Ralimanana, Béatrice Richard, Philippe Gorry, Marie-Cécile Manière, Jeanne A. Rasoamananjara, Simone Rakoto Alson and Hélène Dollfus

 

“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.”

Read the article: http://journal.frontiersin.org/article/10.3389/fphys.2016.00070/full

2 mars 2016|Articles scientifiques|