Frazier-Bowers Sylvia A, Vora Siddharth R
Department of Orthodontics, School of Dentistry, University of North Carolina at Chapel Hill, CB #7450, Chapel Hill, NC, 27599-7450, USA.
Department of Oral Health Sciences, Faculty of Dentistry, University of British Columbia, JBM-184 - 2199 Wesbrook Mall, Vancouver, BC, V6T 1Z3, Canada.
Curr Osteoporos Rep. 2017 Feb;15(1):9-17. doi: 10.1007/s11914-017-0342-7.
The ebb and flow of genetic influence relative to the understanding of craniofacial and dental disorders has evolved into a tacit acceptance of the current genetic paradigm. This review explores the science behind craniofacial and dental disorders through the lens of recent past and current findings and using tooth agenesis as a model of advances in craniofacial genetics.
Contemporary studies of craniofacial biology takes advantage of the technological resources stemming from the genomic and post-genomic eras. Emerging data highlights the role of key genes and the epigenetic landscape controlling these genes, in causing dentofacial abnormalities. We also report here a novel Glu78FS MSX1 mutation in one family segregating an autosomal dominant form of severe tooth agenesis as an illustration of an evolving theme, i.e., different mutations in the same gene can result in a spectrum of dentofacial phenotypic severity. The future of clinical therapeutics will benefit from advances in genetics and molecular biology that refine the genotype-phenotype correlation. Indeed, the past century suggests a continued convergence of genetic science in the practice of clinical dentistry.
在对颅面和牙齿疾病的认识中，遗传影响的起伏已逐渐演变为对当前遗传范式的默认接受。本综述通过回顾近期及当前的研究结果，并以牙齿发育不全作为颅面遗传学进展的模型，探讨颅面和牙齿疾病背后的科学原理。
当代颅面生物学研究利用了基因组和后基因组时代的技术资源。新出现的数据凸显了关键基因以及控制这些基因的表观遗传环境在导致牙颌面异常方面的作用。我们在此还报告了一个家族中一种新的Glu78FS MSX1突变，该家族中存在一种常染色体显性形式的严重牙齿发育不全，以此作为一个不断发展的主题的例证，即同一基因中的不同突变可导致一系列牙颌面表型严重程度。临床治疗的未来将受益于遗传学和分子生物学的进展，这些进展将完善基因型与表型的相关性。事实上，过去一个世纪表明遗传科学在临床牙科实践中持续融合。
