Mutation in PITX3 Causes Cataract
Author Information
Author(s): Berry Vanita, Francis Peter J., Prescott Quincy, Waseem Naushin H., Moore Anthony T., Bhattacharya Shomi S.
Primary Institution: Institute of Ophthalmology, University College London
Hypothesis
Is there a genetic mutation in the PITX3 gene that causes congenital posterior polar cataract in a family?
Conclusion
The study identified a novel 1-bp deletion in the PITX3 gene that causes isolated posterior polar cataract.
Supporting Evidence
- The mutation identified was a 1-bp deletion (542delC) in the PITX3 gene.
- This mutation resulted in a frameshift in codon 181, likely producing an aberrant protein.
- The mutation cosegregated with all affected family members.
Takeaway
A family with cataracts was studied, and researchers found a tiny change in a gene that likely caused the cataracts.
Methodology
Genome-wide linkage analysis and direct sequencing were used to identify the mutation in the PITX3 gene.
Participant Demographics
The study involved a four-generation English family with a total of 16 members.
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