Identification of a novel PAX6 mutation in a Chinese family with aniridia

BACKGROUND: This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. METHODS: The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was per...

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Autores principales: Qiu, Jing-Jing, Zhang, Qian, Geng, Zi-xin, Liu, Min, Zhong, Zi-lin, Chen, Jian-jun, Liu, Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325832/
https://www.ncbi.nlm.nih.gov/pubmed/30621664
http://dx.doi.org/10.1186/s12886-018-1009-6
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author Qiu, Jing-Jing
Zhang, Qian
Geng, Zi-xin
Liu, Min
Zhong, Zi-lin
Chen, Jian-jun
Liu, Fei
author_facet Qiu, Jing-Jing
Zhang, Qian
Geng, Zi-xin
Liu, Min
Zhong, Zi-lin
Chen, Jian-jun
Liu, Fei
author_sort Qiu, Jing-Jing
collection PubMed
description BACKGROUND: This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. METHODS: The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was performed to screen the mutation in PAX6. RESULTS: A novel heterozygous PAX6 deletion c.435_445delTAGCGAAAAGC (p.Ser146ThrfsX9) in exon 7 was identified in all affected individuals, but this was absent in any of the unaffected family members and in the 200 unrelated controls. CONCLUSION: A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype.
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spelling pubmed-63258322019-01-11 Identification of a novel PAX6 mutation in a Chinese family with aniridia Qiu, Jing-Jing Zhang, Qian Geng, Zi-xin Liu, Min Zhong, Zi-lin Chen, Jian-jun Liu, Fei BMC Ophthalmol Research Article BACKGROUND: This study aims to investigate the clinical characterization and causative genetic defect of a four-generation Chinese family with autosomal dominant aniridia. METHODS: The recruited family members underwent comprehensive routine and ophthalmic examinations, and Sanger sequencing was performed to screen the mutation in PAX6. RESULTS: A novel heterozygous PAX6 deletion c.435_445delTAGCGAAAAGC (p.Ser146ThrfsX9) in exon 7 was identified in all affected individuals, but this was absent in any of the unaffected family members and in the 200 unrelated controls. CONCLUSION: A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype. BioMed Central 2019-01-08 /pmc/articles/PMC6325832/ /pubmed/30621664 http://dx.doi.org/10.1186/s12886-018-1009-6 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Research Article
Qiu, Jing-Jing
Zhang, Qian
Geng, Zi-xin
Liu, Min
Zhong, Zi-lin
Chen, Jian-jun
Liu, Fei
Identification of a novel PAX6 mutation in a Chinese family with aniridia
title Identification of a novel PAX6 mutation in a Chinese family with aniridia
title_full Identification of a novel PAX6 mutation in a Chinese family with aniridia
title_fullStr Identification of a novel PAX6 mutation in a Chinese family with aniridia
title_full_unstemmed Identification of a novel PAX6 mutation in a Chinese family with aniridia
title_short Identification of a novel PAX6 mutation in a Chinese family with aniridia
title_sort identification of a novel pax6 mutation in a chinese family with aniridia
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6325832/
https://www.ncbi.nlm.nih.gov/pubmed/30621664
http://dx.doi.org/10.1186/s12886-018-1009-6
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