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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Molecular characterization of Joubert syndrome in Saudi Arabia
Human Mutation, Volume 33, No. 10, Year 2012
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Description
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. © 2012 Wiley Periodicals, Inc.
Authors & Co-Authors
Alazami, Anas M.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
AlShammari, Muneera J.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khalid University Hospital
Salih, Mustafa Abdalla M.
Saudi Arabia, Riyadh
King Khalid University Hospital
Alzahrani, Fatema
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Hijazi, Hadia
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Seidahmed, Mohammed Zain
Saudi Arabia, Riyadh
Security Forces Hospital Program Riyadh
Abu Safieh, Leen
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
AlDosary, Mazhor S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Khan, Arif Omar
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khaled Eye Specialist Hospital
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
King Khalid University Hospital
Saudi Arabia, Riyadh
Alfaisal University
Statistics
Citations: 58
Authors: 10
Affiliations: 5
Identifiers
Doi:
10.1002/humu.22134
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics