Mutations of the CYP1B1 gene in congenital anterior staphylomas

Ramzi Al Judaibi,1 Khaled K Abu-Amero,2,3 Jose Morales,1 Sami Al Shahwan,1 Deepak P Edward1,4 1King Khaled Eye Specialist Hospital, 2Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; 3Department of Ophthalmology, College of Medicine, University...

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Autores principales:	Al Judaibi R, Abu-Amero KK, Morales J, Al Shahwan S, Edward DP
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2014
Materias:	Ophthalmology RE1-994
Acceso en línea:	https://doaj.org/article/4f57c234587d4829b8f13b7fe9cb46c5
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spelling	oai:doaj.org-article:4f57c234587d4829b8f13b7fe9cb46c52021-12-02T01:11:36ZMutations of the CYP1B1 gene in congenital anterior staphylomas1177-5483https://doaj.org/article/4f57c234587d4829b8f13b7fe9cb46c52014-02-01T00:00:00Zhttp://www.dovepress.com/mutations-of-the-cyp1b1-gene-in-congenital-anterior-staphylomas-a15932https://doaj.org/toc/1177-5483 Ramzi Al Judaibi,1 Khaled K Abu-Amero,2,3 Jose Morales,1 Sami Al Shahwan,1 Deepak P Edward1,4 1King Khaled Eye Specialist Hospital, 2Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; 3Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA; 4Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas. Keywords: mutation analysis, congenital glaucoma, consanguinity, congenital aphakiaAl Judaibi RAbu-Amero KKMorales JAl Shahwan SEdward DPDove Medical PressarticleOphthalmologyRE1-994ENClinical Ophthalmology, Vol 2014, Iss default, Pp 445-448 (2014)
institution	DOAJ
collection	DOAJ
language	EN
topic	Ophthalmology RE1-994
spellingShingle	Ophthalmology RE1-994 Al Judaibi R Abu-Amero KK Morales J Al Shahwan S Edward DP Mutations of the CYP1B1 gene in congenital anterior staphylomas
description	Ramzi Al Judaibi,1 Khaled K Abu-Amero,2,3 Jose Morales,1 Sami Al Shahwan,1 Deepak P Edward1,4 1King Khaled Eye Specialist Hospital, 2Department of Ophthalmology, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia; 3Department of Ophthalmology, College of Medicine, University of Florida, Jacksonville, FL, USA; 4Wilmer Eye Institute, Johns Hopkins University School of Medicine, Baltimore MD, USA Purpose: Here, we present two patients with congenital anterior staphyloma, with mutations in the CYP1B1 gene. Methods: We reviewed the medical records, including the genetic analysis. Results: Two unrelated patients presented with congenital anterior staphylomas. Both patients showed mutations in the CYP1B1 gene. The first patient, the product of a consanguineous marriage, showed a homozygous misssense mutation g.3987G>A (p.G61E). The second patient had compound heterozygous misssense mutations [g.4160 G>T (p.A119S) and g.8131 C>G (p.L432V)]. Conclusion: CYP1B1 gene mutation may be associated with congenital anterior staphylomas. Keywords: mutation analysis, congenital glaucoma, consanguinity, congenital aphakia
format	article
author	Al Judaibi R Abu-Amero KK Morales J Al Shahwan S Edward DP
author_facet	Al Judaibi R Abu-Amero KK Morales J Al Shahwan S Edward DP
author_sort	Al Judaibi R
title	Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_short	Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_full	Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_fullStr	Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_full_unstemmed	Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_sort	mutations of the cyp1b1 gene in congenital anterior staphylomas
publisher	Dove Medical Press
publishDate	2014
url	https://doaj.org/article/4f57c234587d4829b8f13b7fe9cb46c5
work_keys_str_mv	AT aljudaibir mutationsofthecyp1b1geneincongenitalanteriorstaphylomas AT abuamerokk mutationsofthecyp1b1geneincongenitalanteriorstaphylomas AT moralesj mutationsofthecyp1b1geneincongenitalanteriorstaphylomas AT alshahwans mutationsofthecyp1b1geneincongenitalanteriorstaphylomas AT edwarddp mutationsofthecyp1b1geneincongenitalanteriorstaphylomas
_version_	1718403253000994816

Mutations of the CYP1B1 gene in congenital anterior staphylomas

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