Kim J-W, Seymen F, Lin B P-J, Kiziltan B, Gencay K, Simmer J P, Hu J C-C
Department of Orthodontics and Pediatric Dentistry, University of Michigan Dental Research Lab, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA.
J Dent Res. 2005 Mar;84(3):278-82. doi: 10.1177/154405910508400314.
To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mutations in kindreds with hypoplastic ADAI, 1 novel (g.4806A>C, IVS6-2A>C) and 1 previously identified (g.8344delG), and have characterized the resulting enamel phenotypes. The IVS6-2A>C mutation caused a severe enamel phenotype in the proband, exhibiting horizontal grooves of severely hypoplastic enamel. The affected mother had several shallow hypoplastic horizontal grooves in the lower anterior teeth. In the case of the g.8344delG mutation, the phenotype was generalized hypoplastic enamel with shallow horizontal grooves in the middle 1/3 of the anterior teeth. In general, mutations in the human enamelin gene cause hypoplastic enamel, often with horizontal grooves, but the severity of the enamel defects is variable, even among individuals with the same mutation.
迄今为止，在患有牙釉质发育不全的家族中已鉴定出4种独特的釉蛋白基因（ENAM）缺陷。为了增进我们对釉蛋白在正常牙釉质形成中作用的理解，并获取与可能的基因型/表型相关性相关的信息，我们在患有发育不全型ADAI的家族中鉴定出2种ENAM突变，1种新突变（g.4806A>C，IVS6-2A>C）和1种先前已鉴定的突变（g.8344delG），并对由此产生的牙釉质表型进行了表征。IVS6-2A>C突变在先证者中导致了严重的牙釉质表型，表现为严重发育不全的牙釉质的水平沟。受影响的母亲在下前牙有几条浅的发育不全水平沟。在g.8344delG突变的情况下，表型为广泛性发育不全的牙釉质，在前牙中1/3有浅水平沟。一般来说，人类釉蛋白基因的突变会导致发育不全的牙釉质，通常伴有水平沟，但即使在具有相同突变的个体中，牙釉质缺陷的严重程度也有所不同。
