Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta
Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta
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DOI：
10.1177/154405910408300505
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发表时间：
2004-05-01
影响因子：
7.6
通讯作者：
Hu, JCC
中科院分区：
文献类型：
--
作者：
Kim, JW;Simmer, JP;Hu, JCC
人类釉原蛋白基因(AMELX，Xp22.3)的突变会导致一组表型多样化的遗传性釉质畸形。我们推测，特定突变对釉原蛋白结构和表达的影响将与釉质表型相关，阐明釉原蛋白结构/功能关系，提高X连锁成釉不全(AI)的临床诊断水平。我们已经鉴定了两个X连锁AI家系，并表征了他们AI表型背后的AMELX突变。这两个错义突变都位于外显子2，并影响翻译起始密码子和/或釉原蛋白的分泌(p.M1T和p.W4s)，导致釉质发育不良。对患有P.M1T突变的女性患者的乳牙进行了光镜和扫描电子显微镜观察。较薄的釉质有棱柱状组织缺陷，表面粗糙，有斑点。牙本质正常。釉质表型的严重程度与突变对釉原蛋白表达和分泌的预测效果相关。
Mutations in the human amelogenin gene (AMELX, Xp22.3) cause a phenotypically diverse set of inherited enamel malformations. We hypothesize that the effects of specific mutations on amelogenin protein structure and expression will correlate with the enamel phenotype, clarify amelogenin structure/function relationships, and improve the clinical diagnosis of X-linked amelogenesis imperfecta (AI). We have identified two kindreds with X-linked AI and characterized the AMELX mutations underlying their AI phenotypes. The two missense mutations are both in exon 2 and affect the translation initiation codon and/or the secretion of amelogenin (p. M1T and p. W4S), resulting in hypoplastic enamel. Primary anterior teeth from affected females with the p. M1T mutation were characterized by light and scanning electron microscopy. The thin enamel had defective prism organization, and the surface was rough and pitted. Dentin was normal. The severity of the enamel phenotype correlated with the predicted effects of the mutations on amelogenin expression and secretion.