PUBLICATION

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.
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.

Genes / Markers
Figures
Show all Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping