Mutation in the PAX6 Gene Linked to Aniridia and Eye Problems
Author Information
Author(s): Shagun Aggarwal, Jinda Worapoj, Limwongse Chanin, Atchaneeyasakul La-ongsri, Shubha R. Phadke
Primary Institution: Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
Hypothesis
To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.
Conclusion
A novel PAX6 mutation was found in a family with aniridia, which may be linked to chorioretinal degeneration.
Supporting Evidence
- A novel PAX6 mutation was identified in all three affected individuals.
- The mutation is located at the donor splice site of intron 12.
- Chorioretinal degeneration was observed in one of the affected individuals.
Takeaway
This study found a new mutation in a gene that causes a condition affecting the eyes, which might also lead to other eye problems.
Methodology
Mutation analysis was performed using single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood.
Participant Demographics
The family consisted of an affected father and his two affected sons, all from the local population in North India.
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