Craniofacial Ciliopathies: A New Classification for Craniofacial Disorders

被引：48

作者：

Brugmann, Samantha A. ^{[1
]}

Cordero, Dwight R. ^{[2
,3
]}

Helms, Jill A. ^{[1
]}

机构：

[1] Stanford Univ, Dept Plast & Reconstruct Surg, Stanford, CA 94305 USA

[2] Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Boston, MA USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2010年 / 152A卷 / 12期

关键词：

primary cilia; craniofacial; Bardet-Biedl; Meckel-Gruber; oral-facial-digital; Joubert syndrome; Ellis-van Creveld; cranioectodermal dysplasia; frontonasal dysplasia; VAN-CREVELD-SYNDROME; FACIAL-DIGITAL SYNDROME; PRIMARY CILIA FORMATION; MECKEL-GRUBER-SYNDROME; BARDET-BIEDL-SYNDROME; INTRAFLAGELLAR TRANSPORT; JOUBERT-SYNDROME; MOUSE MODEL; FRONTONASAL DYSPLASIA; TYPE-1; SYNDROME;

D O I：

10.1002/ajmg.a.33727

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Craniofacial anomalies are some of the most variable and common defects affecting the population. Herein, we examine a group of craniofacial disorders that are the result of defects in primary cilia; ubiquitous, microtubule-based organelles that transduce molecular signals and facilitate the interactions between the cell and its environment. Based on the frequent appearance of craniofacial phenotypes in diseases born from defective primary cilia (ciliopathies) we propose a new class of craniofacial disorders referred to as craniofacial ciliopathies. We explore the most frequent phenotypes associated with ciliopathic conditions and the ciliary gene mutations responsible for craniofacial defects. Finally, we propose that some non-classified disorders may now be classified as craniofacial ciliopathies. (C) 2010 Wiley-Liss, Inc.

引用

页码：2995 / 3006

页数：12

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