Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature
Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature
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DOI：
10.1016/s0003-9969(03)00114-6
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发表时间：
2003-08-01
影响因子：
3
通讯作者：
Wright, JT
中科院分区：
文献类型：
--
作者：
Hart, PS;Michalec, MD;Wright, JT
牙釉质发育障碍是一组遗传异质性的疾病，导致牙釉质发育不良。虽然是X染色体连锁常染色体的显性和常染色体。隐性形式的Al已经被临床表征，只有两个基因（AMELX和ENAM）与Al相关。迄今为止，已经鉴定了三个釉质蛋白（ENAM）突变。这些突变导致表型多样的常染色体。显性Al。详细的表型-基因型相关性尚未进行常染色体。由于ENAM突变而导致的显性Al。我们确定了一个以前未报道的亲属分离的ENAM突变，g.8344delG。对未萌出的恒牙进行光学和电子显微镜分析显示，釉质厚度明显减少，缺乏棱柱结构，外观呈层状。总之，这些组织学特征支持釉蛋白作为正常发育的关键。搪瓷。厚度和它可能有调节c轴微晶生长的作用。由于釉蛋白缺陷的分子和表型多样性不断增加，因此有一个命名和编号系统来表征这些疾病是至关重要的。我们提出了一个标准化的命名ENAM突变，将允许一致的报告和沟通。(C)2003爱思唯尔科技有限公司版权所有。
The amelogenesis imperfectas (Al) area geneticatly heterogeneous group of diseases that result in defective development of tooth enamel. Although X-linked, autosomal. dominant and autosomal. recessive forms of Al have been clinically characterized, only two genes (AMELX and ENAM) have been associated with Al. To date, three enamelin (ENAM) mutations have been identified. These mutations cause phenotypically diverse forms of autosomal. dominant Al. Detailed phenotype-genotype correlations have not been performed for autosomal. dominant Al due to ENAM mutations. We identified a previously unreported kindred segregating for the ENAM mutation, g.8344delG. Light and electron microscopy analyses of unerupted permanent teeth show the enamel is markedly reduced in thickness, Lacks a prismatic structure and has a laminated appearance. Taken together these histological features support the enamelin protein as being critical for the development of a normal. enamel. thickness and that it Likely has a role in regulating c-axis crystallite growth. Because there is growing molecular and phenotypic diversity in the enamelin defects, it is critical to have a nomenclature and numbering system for characterizing these conditions. We present a standardized nomenclature for ENAM mutations that will allow consistent reporting and communication. (C) 2003 Elsevier Science Ltd. All rights reserved.