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Case Reports
. 2011:17:1305-9.
Epub 2011 May 7.

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

Shagun Aggarwal  1 , Worapoj Jinda, Chanin Limwongse, La-ongsri Atchaneeyasakul, Shubha R Phadke
Affiliations
Case Reports

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia

Shagun Aggarwal et al. Mol Vis. 2011.

Abstract

Purpose: To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.

Methods: A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood.

Results: A novel PAX6 mutation in the donor splice site of intron 12 was identified in all three affected individuals from the family. The automated splice site analysis web interface indicated a disturbance of splicing and it was predicted that this mutation could lead to an elimination of the normal stop codon and an abnormal 3' elongation of the mRNA.

Conclusions: We report a novel PAX6 mutation in autosomal dominant aniridia that presumably affects splicing. The presence of chorioretinal degeneration in one of the affected individual raises the possibility that run-on mutations are associated with chorioretinal involvement in aniridia.

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Figures

Figure 1
Figure 1
The family pedigree with salient phenotypic features of the three affected members.
Figure 2
Figure 2
Results of SSCP analysis showing the aberrant migration of the amplification product of the mutant exon 12 in the three affected members (Lane 2, 3, and 4).
Figure 3
Figure 3
Sequencing results of Exon 12 in affected individuals showing the T→C change at donor splice site of intron 12 (IVS12+2 T>C mutation).
See this image and copyright information in PMC

References

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