Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta
Homozygous and Compound Heterozygous MMP20 Mutations in Amelogenesis Imperfecta
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DOI：
10.1177/0022034513488393
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发表时间：
2013-07-01
影响因子：
7.6
通讯作者：
Bloch-Zupan, A.
中科院分区：
文献类型：
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作者：
Gasse, B.;Karayigit, E.;Bloch-Zupan, A.
在这篇文章中，我们聚焦于低饱和常染色体隐性型无染色体发育不完全性（IIA2型），并描述了在两个不相关的家族中证实的2个新的因果基质金属蛋白酶20 （MMP20）突变：在预期的纯合子状态下的错义突变p.T130I，以及具有相同突变并核苷酸缺失的复合杂合突变，导致过早停止密码子（p.N120fz*2）。我们使用扫描电镜和显微分析（能量色散x射线光谱，EDX）对后一病例的牙釉质结构进行了表征，并证实了临床诊断中发现的低饱和度型无釉发育不全。矿化含量略有下降，晶体结构中镁取代了钙。这些异常影响了牙釉质，出现了极少量的棒间牙釉质和垂直于牙釉质棱柱的磷灰石晶体，提示MMP20可能在牙釉质形成中起新的作用。
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.