Mutations of the CYP1B1 gene in congenital anterior staphylomas

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 t...

Descripción completa

Detalles Bibliográficos
Autores principales: Al Judaibi, Ramzi, Abu-Amero, Khaled K, Morales, Jose, Al Shahwan, Sami, Edward, Deepak P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938497/
https://www.ncbi.nlm.nih.gov/pubmed/24591815
http://dx.doi.org/10.2147/OPTH.S53200
_version_ 1782305612204343296
author Al Judaibi, Ramzi
Abu-Amero, Khaled K
Morales, Jose
Al Shahwan, Sami
Edward, Deepak P
author_facet Al Judaibi, Ramzi
Abu-Amero, Khaled K
Morales, Jose
Al Shahwan, Sami
Edward, Deepak P
author_sort Al Judaibi, Ramzi
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3938497
institution National Center for Biotechnology Information
language English
publishDate 2014
publisher Dove Medical Press
record_format MEDLINE/PubMed
spelling pubmed-39384972014-03-03 Mutations of the CYP1B1 gene in congenital anterior staphylomas Al Judaibi, Ramzi Abu-Amero, Khaled K Morales, Jose Al Shahwan, Sami Edward, Deepak P Clin Ophthalmol Case Report 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. Dove Medical Press 2014-02-24 /pmc/articles/PMC3938497/ /pubmed/24591815 http://dx.doi.org/10.2147/OPTH.S53200 Text en © 2014 Al Judaibi et al. This work is published by Dove Medical Press Limited, and licensed under Creative Commons Attribution – Non Commercial (unported, v3.0) License The full terms of the License are available at http://creativecommons.org/licenses/by-nc/3.0/. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Al Judaibi, Ramzi
Abu-Amero, Khaled K
Morales, Jose
Al Shahwan, Sami
Edward, Deepak P
Mutations of the CYP1B1 gene in congenital anterior staphylomas
title 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_short Mutations of the CYP1B1 gene in congenital anterior staphylomas
title_sort mutations of the cyp1b1 gene in congenital anterior staphylomas
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938497/
https://www.ncbi.nlm.nih.gov/pubmed/24591815
http://dx.doi.org/10.2147/OPTH.S53200
work_keys_str_mv AT aljudaibiramzi mutationsofthecyp1b1geneincongenitalanteriorstaphylomas
AT abuamerokhaledk mutationsofthecyp1b1geneincongenitalanteriorstaphylomas
AT moralesjose mutationsofthecyp1b1geneincongenitalanteriorstaphylomas
AT alshahwansami mutationsofthecyp1b1geneincongenitalanteriorstaphylomas
AT edwarddeepakp mutationsofthecyp1b1geneincongenitalanteriorstaphylomas

Ejemplares similares