Craniofacial Ciliopathies: A New Classification for Craniofacial Disorders

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2010 Nov 26

PMID 21108387

Citations 37

Authors

Samantha A Brugmann

Dwight R Cordero

Jill A Helms

Affiliations

Soon will be listed here.

Abstract

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.

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