| Literature DB >> 24488770 |
Mohammed A Aldahmesh1, Yuanyuan Li1, Amal Alhashem2, Shams Anazi1, Hisham Alkuraya3, Mais Hashem1, Ali A Awaji4, Sameera Sogaty5, Abdullah Alkharashi6, Saeed Alzahrani7, Selwa A Al Hazzaa8, Yong Xiong9, Shanshan Kong1, Zhaoxia Sun10, Fowzan S Alkuraya11.
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.Entities:
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Year: 2014 PMID： 24488770 PMCID： PMC4047285 DOI： 10.1093/hmg/ddu044
Source DB: PubMed Journal: Hum Mol Genet ISSN： 0964-6906 Impact factor: 6.150