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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 BBS genes have been identified and the majority of them are essential for the function of BBSome, 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 zebrafish and identified IFT27 as a novel BBS gene (BBS19). This is the first time an intraflagellar transport (IFT) gene is implicated in the pathogenesis of BBS, highlighting the genetic complexity of this disease.

SUBMITTER: Aldahmesh MA 

PROVIDER: S-EPMC4047285 | biostudies-literature | 2014 Jun

REPOSITORIES: biostudies-literature

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

Aldahmesh Mohammed A MA   Li Yuanyuan Y   Alhashem Amal A   Anazi Shams S   Alkuraya Hisham H   Hashem Mais M   Awaji Ali A AA   Sogaty Sameera S   Alkharashi Abdullah A   Alzahrani Saeed S   Al Hazzaa Selwa A SA   Xiong Yong Y   Kong Shanshan S   Sun Zhaoxia Z   Alkuraya Fowzan S FS  

Human molecular genetics 20140131 12

Bardet-Biedl syndrome (BBS) is an autosomal recessive ciliopathy with multisystem involvement. So far, 18 BBS genes have been identified and the majority of them are essential for the function of BBSome, 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 coupl  ...[more]

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