Genetic advances in craniosynostosis.
Genetic advances in craniosynostosis.
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DOI：
10.1002/ajmg.a.38159
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发表时间：
2017-05
期刊：
影响因子：
--
通讯作者：
Boyadjiev SA
中科院分区：
文献类型：
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作者：
Lattanzi W;Barba M;Di Pietro L;Boyadjiev SA
颅缝早闭，一个或多个颅骨缝过早骨化，是一种临床和遗传异质性先天性异常，影响约1/2500活产。在大多数情况下，它作为一个孤立的先天性异常，即非综合征性颅缝早闭（NCS），其遗传和环境原因仍然在很大程度上未知。最近的数据表明，至少有一些中线NCS的情况下，可以解释为两个基因座遗传。在大约25-30%的患者中，颅缝早闭表现为遗传综合征的特征，这是由于染色体缺陷或相互连接的信号通路内的基因突变。本综述的目的是提供一个详细和全面的更新与NCS相关的遗传和环境因素，整合在过去十年中取得的科学成果。重点放在神经发育，成像和治疗方面的NCS也提供。
Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately 1 in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, i.e. nonsyndromic craniosynostosis (NCS), the genetic and environmental causes of which remain largely unknown. Recent data suggest that at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25–30% of patients craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging and treatment aspects of NCS is also provided.