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Can I read Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta on EtoBox?
Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta by B. Gasse; E. Karayigit; E. Mathieu; S. Jung; A. Garret; M. Huckert; S. Morkmued; C. Schneider; L. Vidal; J. Hemmerlé; J.-Y. Sire; A. Bloch-Zupan is a Dentistry article available to read on EtoBox.
What is Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta about?
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.
Who reads Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta?
It is typically read by researchers, students, and practitioners in Dentistry.
- Author
- B. Gasse; E. Karayigit; E. Mathieu; S. Jung; A. Garret; M. Huckert; S. Morkmued; C. Schneider; L. Vidal; J. Hemmerlé; J.-Y. Sire; A. Bloch-Zupan
- Publisher
- International and American Association of Dental Research; SAGE Publications (ISSN 0022-0345)
- Published
- 2013
- Language
- EN
- Field
- Dentistry (Health Sciences)