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

Jing-Jing Qiu¹, Qian Zhang², Zi-Xin Geng^3,4

¹Department of Ophthalmology, the Second Affiliated Hospital of Nanchang University, No.1 Minde Road, Donghu District, Nanchang, 330006, China.

BMC Ophthalmology

|January 10, 2019

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.

Keywords:

Aniridia Autosomal dominant inheritance Mutation PAX6 gene

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