期刊
JOURNAL OF DENTAL RESEARCH
卷 92, 期 7, 页码 598-603出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/0022034513488393
关键词
rare disease; dental anomalies; enamel; human; gene; scanning electron microscopy
资金
- University of Strasbourg
- French Ministry of Health [4266]
- Hopitaux Universitaires de Strasbourg (API)
- Institut Francais pour la Recherche Odontologique (IFRO)
- EU [A27]
- RMT-TMO Offensive Sciences initiative, INTERREG IV Upper Rhine program
- University of Khon Kaen, Faculty of Dentistry, Thailand
In this article, we focus on hypomaturation autosomal-recessive-type amelogenesis imperfecta (type IIA2) and describe 2 new causal Matrix metalloproteinase 20 (MMP20) mutations validated in two unrelated families: a missense mutation p.T130I at the expected homozygous state, and a compound heterozygous mutation having the same mutation combined with a nucleotide deletion, leading to a premature stop codon (p.N120fz*2). We characterized the enamel structure of the latter case using scanning electron microscopy analysis and microanalysis (Energy-dispersive X-ray Spectroscopy, EDX) and confirmed the hypomaturation-type amelogenesis imperfecta as identified in the clinical diagnosis. The mineralized content was slightly decreased, with magnesium substituting for calcium in the crystal structure. The anomalies affected enamel with minimal inter-rod enamel present and apatite crystals perpendicular to the enamel prisms, suggesting a possible new role for MMP20 in enamel formation.
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