Ng F K, Messer L B
University of Melbourne, Victoria, Australia.
Pediatr Dent. 2009 Jan-Feb;31(1):20-30.
Amelogenesis imperfecta (AI) represents a group of hereditary conditions which affects enamel formation in the primary and permanent dentitions. Mutations in genes critical for amelogenesis result in diverse phenotypes characterized by variably thin and/or defective enamel. To date, mutations in 5 genes are known to cause AI in humans. Understanding the molecular etiologies and associated inheritance patterns can assist in the early diagnosis of this condition. Recognition of genotype-phenotype correlations will allow clinicians to guide genetic testing and select appropriate management strategies for patients who express different phenotypes. The purpose of this paper was to provide a narrative review of the current literature on amelogenesis imperfecta, particularly regarding recent advances in the identification of candidate genes and the patterns of inheritance.
牙釉质发育不全（AI）是一组遗传性疾病，会影响乳牙列和恒牙列的牙釉质形成。对牙釉质形成至关重要的基因突变会导致多种表型，其特征是牙釉质可变薄和/或有缺陷。迄今为止，已知有5个基因的突变会导致人类患AI。了解分子病因和相关遗传模式有助于早期诊断这种疾病。认识基因型与表型的相关性将使临床医生能够指导基因检测，并为表现出不同表型的患者选择合适的管理策略。本文的目的是对目前关于牙釉质发育不全的文献进行叙述性综述，特别是关于候选基因鉴定和遗传模式方面的最新进展。
