期刊
JOURNAL OF DENTAL RESEARCH
卷 95, 期 13, 页码 1457-1463出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0022034516663200
关键词
enamel; genetics; genomics; molecular genetics; enamel biomineralization/formation; tooth development
资金
- 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
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.
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