Molecular characterization of Joubert syndrome in Saudi Arabia

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...

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Published in	Human mutation Vol. 33; no. 10; pp. 1423 - 1428
Main Authors	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.
Format	Journal Article
Language	English
Published	Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.10.2012 John Wiley & Sons, Inc
Subjects	Abnormalities, Multiple Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism AHI1 Antigens, Neoplasm - genetics Antigens, Neoplasm - metabolism autozygome analysis C5ORF42 CEP290 Cerebellar Diseases - ethnology Cerebellar Diseases - genetics Cerebellum - abnormalities Child Child, Preschool Exome - genetics Eye Abnormalities - ethnology Eye Abnormalities - genetics Female Genetic Association Studies Humans Infant Kidney Diseases, Cystic - ethnology Kidney Diseases, Cystic - genetics Membrane Proteins - genetics Membrane Proteins - metabolism Mutation Neoplasm Proteins - genetics Neoplasm Proteins - metabolism Pedigree Retina - abnormalities RPGRIP1L Saudi Arabia TCTN1 TMEM237 Saudi Arabia
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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. Hum Mutat 33:1423–1428, 2012. © 2012 Wiley Periodicals, Inc.
AbstractList	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. 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. 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. 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.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.
Author	Khan, Arif O. Abu Safieh, Leen Seidahmed, Mohammed Z. Alazami, Anas M. Salih, Mustafa A. Alzahrani, Fatema Aldosary, Mazhor Alkuraya, Fowzan S. Alshammari, Muneera J. Hijazi, Hadia
Author_xml	– sequence: 1 givenname: Anas M. surname: Alazami fullname: Alazami, Anas M. organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 2 givenname: Muneera J. surname: Alshammari fullname: Alshammari, Muneera J. organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 3 givenname: Mustafa A. surname: Salih fullname: Salih, Mustafa A. organization: Department of Pediatrics, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia – sequence: 4 givenname: Fatema surname: Alzahrani fullname: Alzahrani, Fatema organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 5 givenname: Hadia surname: Hijazi fullname: Hijazi, Hadia organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 6 givenname: Mohammed Z. surname: Seidahmed fullname: Seidahmed, Mohammed Z. organization: Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia – sequence: 7 givenname: Leen surname: Abu Safieh fullname: Abu Safieh, Leen organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 8 givenname: Mazhor surname: Aldosary fullname: Aldosary, Mazhor organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 9 givenname: Arif O. surname: Khan fullname: Khan, Arif O. organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia – sequence: 10 givenname: Fowzan S. surname: Alkuraya fullname: Alkuraya, Fowzan S. email: falkuraya@kfshrc.edu.sa organization: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
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Snippet	Joubert syndrome (JS) is a ciliopathy that is defined primarily by typical cerebellar structural and ocular motility defects. The genetic heterogeneity of this...
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SubjectTerms	Abnormalities, Multiple Adaptor Proteins, Signal Transducing - genetics Adaptor Proteins, Signal Transducing - metabolism AHI1 Antigens, Neoplasm - genetics Antigens, Neoplasm - metabolism autozygome analysis C5ORF42 CEP290 Cerebellar Diseases - ethnology Cerebellar Diseases - genetics Cerebellum - abnormalities Child Child, Preschool Exome - genetics Eye Abnormalities - ethnology Eye Abnormalities - genetics Female Genetic Association Studies Humans Infant Kidney Diseases, Cystic - ethnology Kidney Diseases, Cystic - genetics Membrane Proteins - genetics Membrane Proteins - metabolism Mutation Neoplasm Proteins - genetics Neoplasm Proteins - metabolism Pedigree Retina - abnormalities RPGRIP1L Saudi Arabia TCTN1 TMEM237
Title	Molecular characterization of Joubert syndrome in Saudi Arabia
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