A Novel PAX6 Mutation in Chinese Patients with Severe Congenital Aniridia

Abstract

Purpose: We identified a novel mutation in Paired Box gene 6 (PAX6) and characterized its associated clinical features of severe ocular malformation in a Chinese family with congenital aniridia.

Methods: We studied two patients with aniridia from a Chinese family. All patients and noncarriers in this family underwent full ophthalmologic, general and urinary examinations. Total genomic DNA was isolated from peripheral blood of two aniridia patients. PAX6 levels were determined by PCR and its mutational status was determined by sequencing. Direct sequencing detected variations in PAX6.

Results: Patients had bilateral congenital nystagmus, anterior polar cataract, absence of iris tissue, and foveal hypoplasia with severely reduced visual acuity. A novel heterozygous PAX6 mutation in exon 6 c.662G>A (p.W100X) was identified which created a premature termination codon. This observed sequence alteration was not found in 100 normal controls and has not been previously reported.

Conclusions: We identified a novel PAX6 mutation in a family with severe ocular malformation. Our study expands the mutational spectrum of PAX6 and enriches our knowledge of the relationship between genotype and phenotype due to these mutations.

KEYWORDS::

• Aniridia
• Congenital
• Pax6
• Mutation

ACKNOWLEDGMENTS

We thank the patients and their family members for their participation. This study was supported in part by the “Beijing Health Systems High-level Health and Technical Talent Training Plan (2009-2-05).” The Scientific Research Key Program of the Beijing Municipal Commission on Education (grant KZ200910025009).

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.