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

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Abstract

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.

Related collections

Most cited references 21

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The human PAX6 gene is mutated in two patients with aniridia.

T. Jordan, I. Hanson, Alan Seawright … (1992)

Aniridia is an inherited ocular disorder of variable expressivity characterized by iris hypoplasia. A candidate aniridia gene, AN, which is the human homologue of the mouse Pax-6 gene, has recently been isolated by positional cloning from the WAGR region of 11p13. Here we describe mutations in this gene in two cases of sporadic aniridia, one detected at the DNA level and one at the RNA level, both of which are predicted to affect protein function. Mutations in Pax-6 have been described previously in Small eye, the proposed mouse model for aniridia. We present new phenotypic evidence for the validity of this mouse model.

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Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Harri Hirvonen, Carl Ton, Hiroshi Miwa … (1991)

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Prevalence and mode of inheritance of major genetic eye diseases in China.

D. Hu (1987)

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and analysed all over China. Based on these data, the prevalence and mode of inheritance of dyschromatopsia, degenerative myopia, retinitis pigmentosa, congenital ptosis, congenital microphthalmos, congenital cataract, congenital glaucoma, Leber's optic atrophy, corneal dystrophy, congenital nystagmus, coloboma of the eye, congenital aniridia, retinoblastoma, macular dystrophy, simple myopia, primary glaucoma, and strabismus have been investigated, and the results are presented.

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Author and article information

Contributors

Jing-Jing Qiu: +86-791-86299710 , zhangqian9963@163.com

Qian Zhang: +86-791-86299710 , zhangqian9963@163.com

Fei Liu: LF61@sina.com

Journal

Journal ID (nlm-ta): BMC Ophthalmol

Journal ID (iso-abbrev): BMC Ophthalmol

Title: BMC Ophthalmology

Publisher: BioMed Central (London )

ISSN (Electronic): 1471-2415

Publication date (Electronic): 8 January 2019

Publication date PMC-release: 8 January 2019

Publication date Collection: 2019

Volume: 19

Electronic Location Identifier: 10

Affiliations

[1 ]GRID grid.412455.3, Department of Ophthalmology, , the Second Affiliated Hospital of Nanchang University, ; No.1 Minde Road, Donghu District, Nanchang, 330006 China

[2 ]ISNI 0000000123704535, GRID grid.24516.34, Department of Ophthalmology of Shanghai Tenth People’s Hospital, and Tongji Eye Institute, Tongji University School of Medicine, ; Shanghai, 200092 China

[3 ]ISNI 0000000123704535, GRID grid.24516.34, Department of Medical Genetics Tongji University School of Medicine, ; Shanghai, 200092 China

Article

Publisher ID: 1009

DOI: 10.1186/s12886-018-1009-6

PMC ID: 6325832

PubMed ID: 30621664

SO-VID: 988943e5-7711-40bc-9551-c71399e4f03d

License:

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.