Journal
JOURNAL OF DENTAL RESEARCH
Volume 95, Issue 13, Pages 1457-1463Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0022034516663200
Keywords
enamel; genetics; genomics; molecular genetics; enamel biomineralization/formation; tooth development
Categories
Funding
- French Ministry of Health
- EU [ANR-10-LABX-0030-INRT]
- Agence Nationale de la Recherche [ANR-10-IDEX-0002-02]
- University of Strasbourg Institute for Advanced Study (USIAS)
- INSERM/CNRST
Ask authors/readers for more resources
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_46de1, 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 COL17Al 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available