颅缝早闭的遗传病因：最新进展
Genetic Causes of Craniosynostosis: An Update.
作者信息
Goos Jacqueline A C, Mathijssen Irene M J
机构信息
Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
出版信息
Mol Syndromol. 2019 Feb;10(1-2):6-23. doi: 10.1159/000492266. Epub 2018 Aug 15.
Abstract
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.
摘要
1993年，贾布斯等人首次描述了颅缝早闭的遗传起源。自这一发现以来，已阐明了最常见综合征的遗传病因。2015年，共报告了57个人类基因，有证据表明这些基因的突变与颅缝早闭存在因果关系。此后，在快速的技术发展推动下，又发现了许多其他基因。通过回顾文献，我们对最常见的颅缝早闭综合征进行了特征描述，随后介绍了在2015年1月至2017年12月期间发现的新病因。
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