Article
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.
Human molecular genetics - 15 Jun 2014
Aldahmesh Mohammed A, Li Yuanyuan, Alhashem Amal, Anazi Shams, Alkuraya Hisham, Hashem Mais, Awaji Ali A, Sogaty Sameera, Alkharashi Abdullah, Alzahrani Saeed, Al Hazzaa Selwa A, Xiong Yong, Kong Shanshan, Sun Zhaoxia, Alkuraya Fowzan S
Abstract excerpt
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...
Topics
- Adolescent
- Amino Acid Sequence
- Animals
- Bardet-Biedl Syndrome
- Consanguinity
- Evolution, Molecular
- Exome
- Female
- Genetic Predisposition to Disease
- High-Throughput Nucleotide Sequencing