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<identifier>oai:HAL:hal-01545484v1</identifier>
<datestamp>2018-01-11</datestamp>
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<publisher>HAL CCSD</publisher>
<title lang=en>Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta</title>
<creator>Gasse, B.</creator>
<creator>Karayigit, E.</creator>
<creator>Mathieu, E.</creator>
<creator>Jung, S.</creator>
<creator>GARRET, A.</creator>
<creator>Huckert, M.</creator>
<creator>Morkmued, S.</creator>
<creator>Schneider, C.</creator>
<creator>Vidal, L.</creator>
<creator>Hemmerle, J.</creator>
<creator>Sire, J. -Y.</creator>
<creator>Bloch-Zupan, A.</creator>
<contributor>Evolution et développement du squelette (EDS) ; Systématique, adaptation, évolution (SAE) ; Centre National de la Recherche Scientifique (CNRS) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Centre National de la Recherche Scientifique (CNRS) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Evolution Paris Seine ; Université des Antilles et de la Guyane (UAG) - Université Pierre et Marie Curie - Paris 6 (UPMC) - Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA) - Centre National de la Recherche Scientifique (CNRS) - Université des Antilles et de la Guyane (UAG) - Université Nice Sophia Antipolis (UNS) ; Université Côte d'Azur (UCA) - Université Côte d'Azur (UCA)</contributor>
<contributor>University of Strasbourg</contributor>
<contributor> French Ministry of Health [4266]</contributor>
<contributor> Hopitaux Universitaires de Strasbourg (API)</contributor>
<contributor> Institut Francais pour la Recherche Odontologique (IFRO)</contributor>
<contributor> EU [A27]</contributor>
<contributor> RMT-TMO Offensive Sciences initiative, INTERREG IV Upper Rhine program</contributor>
<contributor> University of Khon Kaen, Faculty of Dentistry, Thailand</contributor>
<description>International audience</description>
<source>ISSN: 0022-0345</source>
<source>Journal of Dental Research</source>
<publisher>SAGE Publications (UK and US)</publisher>
<identifier>hal-01545484</identifier>
<identifier>https://hal.archives-ouvertes.fr/hal-01545484</identifier>
<source>https://hal.archives-ouvertes.fr/hal-01545484</source>
<source>Journal of Dental Research, SAGE Publications (UK and US), 2013, 92 (7), pp.598-603. 〈10.1177/0022034513488393〉</source>
<identifier>DOI : 10.1177/0022034513488393</identifier>
<relation>info:eu-repo/semantics/altIdentifier/doi/10.1177/0022034513488393</relation>
<language>en</language>
<subject lang=en>rare disease</subject>
<subject lang=en> dental anomalies</subject>
<subject lang=en> enamel</subject>
<subject lang=en> human</subject>
<subject lang=en> gene</subject>
<subject lang=en> scanning electron microscopy</subject>
<subject>[SDV.BID.EVO] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE]</subject>
<type>info:eu-repo/semantics/article</type>
<type>Journal articles</type>
<description lang=en>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.</description>
<date>2013-07</date>
</dc>
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