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Molecular characterization of Joubert syndrome in Saudi Arabia.
Hum Mutat. 2012 Oct; 33(10):1423-8.HM

Abstract

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.

Authors+Show Affiliations

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22693042

Citation

Alazami, Anas M., et al. "Molecular Characterization of Joubert Syndrome in Saudi Arabia." Human Mutation, vol. 33, no. 10, 2012, pp. 1423-8.
Alazami AM, Alshammari MJ, Salih MA, et al. Molecular characterization of Joubert syndrome in Saudi Arabia. Hum Mutat. 2012;33(10):1423-8.
Alazami, A. M., Alshammari, M. J., Salih, M. A., Alzahrani, F., Hijazi, H., Seidahmed, M. Z., Abu Safieh, L., Aldosary, M., Khan, A. O., & Alkuraya, F. S. (2012). Molecular characterization of Joubert syndrome in Saudi Arabia. Human Mutation, 33(10), 1423-8. https://doi.org/10.1002/humu.22134
Alazami AM, et al. Molecular Characterization of Joubert Syndrome in Saudi Arabia. Hum Mutat. 2012;33(10):1423-8. PubMed PMID: 22693042.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular characterization of Joubert syndrome in Saudi Arabia. AU - Alazami,Anas M, AU - Alshammari,Muneera J, AU - Salih,Mustafa A, AU - Alzahrani,Fatema, AU - Hijazi,Hadia, AU - Seidahmed,Mohammed Z, AU - Abu Safieh,Leen, AU - Aldosary,Mazhor, AU - Khan,Arif O, AU - Alkuraya,Fowzan S, Y1 - 2012/07/11/ PY - 2012/04/14/received PY - 2012/05/23/accepted PY - 2012/6/14/entrez PY - 2012/6/14/pubmed PY - 2013/7/6/medline SP - 1423 EP - 8 JF - Human mutation JO - Hum. Mutat. VL - 33 IS - 10 N2 - 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. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/22693042/Molecular_characterization_of_Joubert_syndrome_in_Saudi_Arabia_ L2 - https://doi.org/10.1002/humu.22134 DB - PRIME DP - Unbound Medicine ER -