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

Hum Mol Genet. 2014 Jun 15;23(12):3307-15. doi: 10.1093/hmg/ddu044.

Mohammed A Aldahmesh ¹, Yuanyuan Li ¹, Amal Alhashem ², Shams Anazi ¹, Hisham Alkuraya ³, Mais Hashem ¹, Ali A Awaji ⁴, Sameera Sogaty ⁵, Abdullah Alkharashi ⁶, Saeed Alzahrani ⁷, Selwa A Al Hazzaa ⁸, Yong Xiong ⁹, Shanshan Kong ¹, Zhaoxia Sun ¹⁰, Fowzan S Alkuraya ¹¹

Affiliations

1 Department of Genetics and.
2 Deparment of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
3 Department of Ophthalmology, College of Medicine, Imam Muhammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.
4 Department of Pediatrics, King Fahad Central Hospital, Jazan, Saudi Arabia.
5 Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia and.
6 Deparment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
7 Department of Pediatric Nephrology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
8 Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
9 Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
10 Department of Genetics and [email protected] [email protected].
11 Department of Genetics and Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia [email protected] [email protected].

PMID: 24488770 DOI: 10.1093/hmg/ddu044

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.

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