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A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

PURPOSE: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. METHODS: The entire coding region of paired box gene 6 (PAX6) was amplified by poly...

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Autores principales: Torkashvand, Ali, Mohebbi, Masoomeh, Hashemi, Hassan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127359/
https://www.ncbi.nlm.nih.gov/pubmed/30197953
http://dx.doi.org/10.1016/j.joco.2017.12.006
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author Torkashvand, Ali
Mohebbi, Masoomeh
Hashemi, Hassan
author_facet Torkashvand, Ali
Mohebbi, Masoomeh
Hashemi, Hassan
author_sort Torkashvand, Ali
collection PubMed
description PURPOSE: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. METHODS: The entire coding region of paired box gene 6 (PAX6) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database. RESULTS: A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. CONCLUSIONS: Our findings suggest that this novel mutation is most likely responsible for the pathogenesis of the congenital aniridia, cataract, and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation of PAX6 gene in a kindred pedigree with various ocular abnormalities.
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spelling pubmed-61273592018-09-07 A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies Torkashvand, Ali Mohebbi, Masoomeh Hashemi, Hassan J Curr Ophthalmol Article PURPOSE: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus. METHODS: The entire coding region of paired box gene 6 (PAX6) was amplified by polymerase chain reaction (PCR), sequenced, and compared with a GenBank database. RESULTS: A novel mutation (c.1170 C > T; p.Gln297X) was found in the proband and all affected members. This nonsense mutation leads to PAX6 protein truncation. CONCLUSIONS: Our findings suggest that this novel mutation is most likely responsible for the pathogenesis of the congenital aniridia, cataract, and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation of PAX6 gene in a kindred pedigree with various ocular abnormalities. Elsevier 2018-03-07 /pmc/articles/PMC6127359/ /pubmed/30197953 http://dx.doi.org/10.1016/j.joco.2017.12.006 Text en © 2017 Iranian Society of Ophthalmology. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Article
Torkashvand, Ali
Mohebbi, Masoomeh
Hashemi, Hassan
A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title_full A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title_fullStr A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title_full_unstemmed A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title_short A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies
title_sort novel pax6 nonsense mutation identified in an iranian family with various eye anomalies
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127359/
https://www.ncbi.nlm.nih.gov/pubmed/30197953
http://dx.doi.org/10.1016/j.joco.2017.12.006
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