Genetic Causes of Craniosynostosis: An Update

被引：52

作者：

Goos, Jacqueline A. C. ^{[1
]}

Mathijssen, Irene M. J. ^{[1
]}

机构：

[1] Univ Med Ctr Rotterdam, Erasmus MC, Dept Plast & Reconstruct Surg & Hand Surg, Rotterdam, Netherlands

来源：

MOLECULAR SYNDROMOLOGY | 2019年 / 10卷 / 1-2期

关键词：

Calvarial suture development; Chromosomal rearrangement; Common craniosynostosis syndromes; Single-gene causes; GROWTH-FACTOR RECEPTOR-2; SAETHRE-CHOTZEN-SYNDROME; DE-NOVO MUTATIONS; LINKED HYPOPHOSPHATEMIC RICKETS; TRIGONOCEPHALY-C-SYNDROME; JACKSON-WEISS-SYNDROME; AGE EFFECT MUTATIONS; CRANIOFRONTONASAL SYNDROME; PFEIFFER-SYNDROME; CROUZON-SYNDROME;

D O I：

10.1159/000492266

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. (c) 2018 S. Karger AG, Basel

引用

页码：6 / 23

页数：18

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