Communicated by Ian N.M. Day
Molecular characterization of Joubert syndrome in Saudi Arabia†
Article first published online: 11 JUL 2012
© 2012 Wiley Periodicals, Inc.
Volume 33, Issue 10, pages 1423–1428, October 2012
How to Cite
Alazami, A. M., Alshammari, M. J., Salih, M. A., Alzahrani, F., Hijazi, H., Seidahmed, M. Z., Abu Safieh, L., Aldosary, M., Khan, A. O. and Alkuraya, F. S. (2012), Molecular characterization of Joubert syndrome in Saudi Arabia. Hum. Mutat., 33: 1423–1428. doi: 10.1002/humu.22134
- Issue published online: 13 SEP 2012
- Article first published online: 11 JUL 2012
- Accepted manuscript online: 12 JUN 2012 04:13PM EST
- Manuscript Accepted: 23 MAY 2012
- Manuscript Received: 14 APR 2012
- KACST Grants 08MED497-20 and 09-MED941-20 (to F.S.A.); DHFMR Collaborative Research Grant (to F.S.A.)
- autozygome analysis;
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 identified mutations in RPGRIP1L, AHI1, TMEM237, and CEP290, while exome sequencing revealed families with truncating mutations in TCTN1 and C5ORF42. Our study, the largest comprehensive molecular series on JS, provides independent confirmation of the recently reported TCTN1, TMEM237, and C5ORF42 as bona fide JS disease genes, and expands the allelic heterogeneity of this disease. Hum Mutat 33:1423–1428, 2012. © 2012 Wiley Periodicals, Inc.