Mutations in the UBIAD1 Gene Cause Schnyder Crystalline Corneal Dystrophy
Author Information
Author(s): Orr Andrew, Dubé Marie-Pierre, Marcadier Julien, Jiang Haiyan, Federico Antonio, George Stanley, Seamone Christopher, Andrews David, Dubord Paul, Holland Simon, Provost Sylvie, Mongrain Vanessa, Evans Susan, Higgins Brent, Bowman Sharen, Guernsey Duane, Samuels Mark
Primary Institution: Dalhousie University
Hypothesis
Is the UBIAD1 gene responsible for Schnyder crystalline corneal dystrophy?
Conclusion
The study identified five mutations in the UBIAD1 gene that are likely responsible for Schnyder crystalline corneal dystrophy.
Supporting Evidence
- Five different mutations in the UBIAD1 gene were identified in affected families.
- All mutations were found to segregate with the disease in the families studied.
- None of the mutations were found in unaffected individuals or control samples.
Takeaway
This study found that a gene called UBIAD1 has changes that cause a rare eye disease that makes the cornea cloudy.
Methodology
The researchers performed linkage analysis and direct DNA sequencing on affected individuals from multiple families.
Potential Biases
Potential bias in participant selection as the study focused on specific families with the disease.
Limitations
The study may not account for all genetic variations due to the rarity of the disease.
Participant Demographics
Affected individuals were from a large multigenerational family in Nova Scotia and other small families of various ethnic backgrounds.
Statistical Information
P-Value
8.7
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website