Mutation in CERKL Causes Retinal Degeneration
Author Information
Author(s): Ali Manir, Ramprasad Vedam Lakshmi, Soumittra Nagasamy, Mohamed Moin D., Jafri Hussain, Rashid Yasmin, Danciger Michael, McKibbin Martin, Kumaramanickavel Govindasamy, Inglehearn Chris F.
Primary Institution: Leeds Institute of Molecular Medicine, St. James’s University Hospital, Leeds, United Kingdom
Hypothesis
To investigate the genetic basis of autosomal recessive retinal degeneration in a large consanguineous family from Pakistan.
Conclusion
A missense mutation in the CERKL gene is linked to retinal degeneration in a Pakistani family.
Supporting Evidence
- The mutation segregated with retinal degeneration in the family.
- The mutation was not found in 174 ethnically matched unaffected controls.
- This is the third reported mutation in CERKL causing retinal degeneration.
Takeaway
Three brothers in a family from Pakistan have a genetic change that makes them lose their vision.
Methodology
Ophthalmic examinations and genomic DNA analysis were performed to identify the mutation.
Limitations
Electroretinograms or fundus photographs could not be obtained due to the location of the study.
Participant Demographics
Three affected siblings from a consanguineous family in Pakistan.
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