[HTML][HTML] Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
S Aggarwal, W Jinda, C Limwongse… - Molecular …, 2011 - ncbi.nlm.nih.gov
S Aggarwal, W Jinda, C Limwongse, L Atchaneeyasakul, SR Phadke
Molecular vision, 2011•ncbi.nlm.nih.govPurpose 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 …
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 …
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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