17 research outputs found
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
International audienceAmelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of SLC10A7 (NM_001300842.2: c.908C>T; p.Pro303Leu) segregating with the disease phenotype. We found that Slc10a7 transcripts were expressed in the epithelium of the developing mouse tooth, bones undergoing ossification, and in vertebrae. Our results revealed that SLC10A7 is overexpressed in patient fibroblasts. Patient cells display altered intracellular calcium localization suggesting that SLC10A7 regulates calcium trafficking. Mutations in this gene were previously reported to cause a similar syndromic phenotype, but with more severe skeletal defects (Ashikov et al., 2018;Dubail et al., 2018). Therefore, phenotypes resulting from a mutation in SLC10A7 can vary in severity. However, AI is the key feature indicative of SLC10A7 mutations in patients with skeletal dysplasia. Identifying this important phenotype will improve clinical diagnosis and patient management
Comparaison de la prise en charge odontologique thérapeutique et préventive chez l'enfant de moins de 6 ans entre l'Australie et la France
REIMS-BU Santé (514542104) / SudocSTRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocLILLE2-UFR Odontologie (593502202) / SudocSudocFranceF
Aspects cliniques et génétiques de l'hypophosphatasie (contribution de l'odontologiste au diagnostic précoce de la maladie)
REIMS-BU Santé (514542104) / SudocSTRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocLILLE2-UFR Odontologie (593502202) / SudocSudocFranceF
Caractéristiques cliniques et moléculaires des dysplasies ectodermiques et du modèle expérimental murin (la souris Tabby)
REIMS-BU Santé (514542104) / SudocSTRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocLILLE2-UFR Odontologie (593502202) / SudocSudocFranceF
Le point sur les scellements de sillons en 2000
LILLE2-UFR Odontologie (593502202) / SudocSTRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocNANTES-Bib.Odontologie (441092219) / SudocSudocFranceF
Prise en charge bucco-dentaire de l'adolescent (aspects comportementaux)
STRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
Santé bucco-dentaire d'une population d'enfants âgée de 10 à 13 ans dans une région rurale du Brésil.
REIMS-BU Santé (514542104) / SudocSTRASBOURG-Medecine (674822101) / SudocPARIS-BIUM (751062103) / SudocSTRASBOURG-Sc. et Techniques (674822102) / SudocLILLE2-UFR Odontologie (593502202) / SudocSudocFranceF
Contribution à la prévention de la carie dentaire en France par l'utilisation du sel fluorure.
STRASBOURG-Medecine (674822101) / SudocSudocFranceF
Evaluation de l'anxiété de l'enfant liée aux soins dentaires
STRASBOURG-Medecine (674822101) / SudocSudocFranceF
Prise en charge bucco-dentaire sous anesthésie générale des enfants atteints de maladies rares (étude retrospective dans le cadre du centre de référence de Strasbourg)
STRASBOURG-Medecine (674822101) / SudocSudocFranceF