IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
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.
Department of Genetics and.
Mohammed A
MA
Aldahmesh
Department of Genetics and.
Yuanyuan
Y
Li
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.
Amal
A
Alhashem
Department of Genetics and.
Shams
S
Anazi
Department of Ophthalmology, College of Medicine, Imam Muhammad Ibn Saud Islamic University, Riyadh, Saudi Arabia.
Hisham
H
Alkuraya
Department of Genetics and.
Mais
M
Hashem
Department of Pediatrics, King Fahad Central Hospital, Jazan, Saudi Arabia.
Ali A
AA
Awaji
Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia and.
Sameera
S
Sogaty
Deparment of Ophthalmology, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Abdullah
A
Alkharashi
Department of Pediatric Nephrology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Saeed
S
Alzahrani
Department of Ophthalmology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia Department of Ophthalmology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Selwa A
SA
Al Hazzaa
Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, CT, USA.
Yong
Y
Xiong
Department of Genetics and.
Shanshan
S
Kong
Department of Genetics and falkuraya@kfshrc.edu.sa zhaoxia.sun@yale.edu.
Zhaoxia
Z
Sun
Department of Genetics and Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia falkuraya@kfshrc.edu.sa zhaoxia.sun@yale.edu.
Fowzan S
FS
Alkuraya
D000293:Adolescent; D000595:Amino Acid Sequence; D000818:Animals; D020788:Bardet-Biedl Syndrome / Q000201:enzymology* / Q000235:genetics / Q000473:pathology*; D003241:Consanguinity; D019143:Evolution, Molecular; D059472:Exome; D005260:Female; D020022:Genetic Predisposition to Disease; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008958:Models, Molecular; D020559:Monomeric GTP-Binding Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism*; D010375:Pedigree; D017354:Point Mutation; D012529:Saudi Arabia; D016415:Sequence Alignment; D015027:Zebrafish
D020559:Monomeric GTP-Binding Proteins