Article
Molecular characterization of Joubert syndrome in Saudi Arabia.
Human mutation - 1 Oct 2012
Alazami Anas M, Alshammari Muneera J, Salih Mustafa A, Alzahrani Fatema, Hijazi Hadia, Seidahmed Mohammed Z, Abu Safieh Leen, Aldosary Mazhor, Khan Arif O, Alkuraya Fowzan S
Abstract excerpt
Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this condition is significant with 16 genes identified to date. We have used a combination of autozygome-guided candidate gene mutation analysis and exome sequencing to identify the causative mutation in a series of 12 families. The autozygome approach...
Topics
- Abnormalities, Multiple
- Adaptor Proteins, Signal Transducing
- Adaptor Proteins, Vesicular Transport
- Antigens, Neoplasm
- Cell Cycle Proteins
- Cerebellar Diseases
- Cerebellum
- Child
- Child, Preschool
- Cytoskeletal Proteins
- Exome
- Eye Abnormalities
- Female