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

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

SUBMITTER: Aggarwal S 

PROVIDER: S-EPMC3103739 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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

Aggarwal Shagun S   Jinda Worapoj W   Limwongse Chanin C   Atchaneeyasakul La-ongsri LO   Phadke Shubha R SR  

Molecular vision 20110507

<h4>Purpose</h4>To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.<h4>Methods</h4>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.<h4>Results</h4>A novel PAX6 mutation in the donor splice site of intron 12 was identified in all three affected ind  ...[more]

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