IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome
- Authors
- Aldahmesh, M.A., Li, Y., Alhashem, A., Anazi, S., Alkuraya, H., Hashem, M., Awaji, A.A., Sogaty, S., Alkharashi, A., Alzahrani, S., Al Hazzaa, S.A., Xiong, Y., Kong, S., Sun, Z., and Alkuraya, F.S.
- ID
- ZDB-PUB-140410-13
- Date
- 2014
- Source
- Human molecular genetics 23(12): 3307-15 (Journal)
- Registered Authors
- Sun, Zhaoxia
- Keywords
- none
- MeSH Terms
-
- Adolescent
- Amino Acid Sequence
- Animals
- Bardet-Biedl Syndrome/enzymology*
- Bardet-Biedl Syndrome/genetics
- Bardet-Biedl Syndrome/pathology*
- Consanguinity*
- Evolution, Molecular
- Exome
- Female
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Models, Molecular
- Monomeric GTP-Binding Proteins/chemistry
- Monomeric GTP-Binding Proteins/genetics*
- Monomeric GTP-Binding Proteins/metabolism*
- Pedigree
- Point Mutation
- Saudi Arabia
- Sequence Alignment
- Zebrafish
- PubMed
- 24488770 Full text @ Hum. Mol. Genet.
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.