由新型SLC24A4突变引起的低成熟型釉质发育不全
Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
作者信息
Herzog Curtis R, Reid Bryan M, Seymen Figen, Koruyucu Mine, Tuna Elif Bahar, Simmer James P, Hu Jan C-C
机构信息
Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, MI, USA.
Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.
出版信息
Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb;119(2):e77-81. doi: 10.1016/j.oooo.2014.09.003. Epub 2014 Sep 16.
In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for hardening dental enamel during tooth development.
在这份常染色体隐性色素沉着发育不全型釉质发育不全（AI）的病例报告中，我们在SLC24A4基因中鉴定出一个新的纯合错义突变（g.165151 T>G；c.1317 T>G；p.Leu436 Arg），该基因编码一种钾依赖性钠钙交换蛋白，在牙齿发育过程中对牙釉质硬化至关重要。
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