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A novel
Ali Torkashvand1, Masoomeh Mohebbi1, Hassan Hashemi2,3
1Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Journal of Current Ophthalmology
|September 11, 2018
Summary
A novel mutation in the PAX6 gene was identified in a family with congenital aniridia, cataract, and nystagmus. This genetic defect causes PAX6 protein truncation, leading to these severe ocular abnormalities.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Ocular anomalies like aniridia, cataract, and nystagmus can stem from genetic defects.
- The paired box gene 6 (PAX6) is crucial for eye development.
Purpose of the Study:
- To identify the genetic cause of various ocular phenotypes in a large family.
- Investigate mutations within the PAX6 gene in affected individuals.
Main Methods:
- Polymerase chain reaction (PCR) was used to amplify the PAX6 gene's coding region.
- DNA sequencing and comparison with GenBank database identified genetic variations.
Main Results:
- A novel nonsense mutation (c.1170 C > T; p.Gln297X) was discovered in affected family members.
- This mutation results in the truncation of the PAX6 protein.
Conclusions:
- The identified PAX6 mutation is likely responsible for the observed ocular abnormalities.
- This is the first report of this specific PAX6 mutation in a kindred with diverse ocular defects.
