IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with bardet-biedl syndrome

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBSgenes havebeen identified andthe majorityofthem are essential for the function ofBBSome, a protein complex involved in transporting membrane proteins into and from cilia. Yet defects in the identified genes cannot account for all the BBS cases. The genetic heterogeneity of this disease poses significant challenge to the identification of additional BBS genes. In this study, we coupled human genetics with functional validation in zebrafishandidentifiedIFT27 as a novelBBSgene(BBS19). This is the first time anintraflagellar transport (IFT)geneis implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease. © The Author 2014. Published by Oxford University Press. All rights reserved.