Mutations in the TOPORS gene and their link to retinitis pigmentosa
Author Information
Author(s): Bowne Sara J., Sullivan Lori S., Gire Anisa I., Birch David G., Hughbanks-Wheaton Dianna, Heckenlively John R., Daiger Stephen P.
Primary Institution: The University of Texas Health Science Center at Houston
Hypothesis
Do mutations in the TOPORS gene cause a significant fraction of autosomal dominant retinitis pigmentosa?
Conclusion
Mutations in the TOPORS gene account for approximately 1% of autosomal dominant retinitis pigmentosa cases.
Supporting Evidence
- Two different TOPORS mutations were identified in one proband each.
- Patients with these mutations showed clinical signs typical of advanced retinitis pigmentosa.
- No large deletions or insertions of TOPORS were found in the study.
Takeaway
This study found that a small number of people with a specific eye disease have changes in a gene called TOPORS.
Methodology
The study analyzed DNA from 215 families with autosomal dominant retinitis pigmentosa to identify mutations in the TOPORS gene using sequencing and multiplex ligation probe amplification.
Limitations
The study did not identify large deletions or insertions in the TOPORS gene, and the cohort primarily consisted of individuals of Western European origin, which may limit generalizability.
Participant Demographics
The cohort included 215 families, primarily of Western European origin.
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