New PAX6 Mutation Linked to Aniridia in Ashkenazi-Jewish Family
Author Information
Author(s): Bandah Dikla, Rosenmann Ada, Blumenfeld Anat, Averbukh Edward, Banin Eyal, Sharon Dror
Primary Institution: Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel
Hypothesis
To report a novel de novo PAX6 mutation in an Ashkenazi-Jewish family with autosomal dominant aniridia.
Conclusion
A novel de novo frameshift mutation in PAX6 was found in a family with autosomal dominant aniridia, suggesting that the normal expression of shorter protein isoforms cannot prevent the disease.
Supporting Evidence
- The index patient and her daughter were diagnosed with aniridia and other eye conditions.
- A heterozygous PAX6 frameshift mutation was identified in the affected individuals.
- The mutation was not found in any of the unaffected family members.
Takeaway
This study found a new mutation in a gene that causes a serious eye condition called aniridia, which affects how the eye develops.
Methodology
Blood samples were drawn from family members and DNA was analyzed by direct sequencing and microsatellite marker analysis.
Participant Demographics
Two members of an Ashkenazi-Jewish family.
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