Mutation in GJA8 Causes Triangular Cataract
Author Information
Author(s): Schmidt Werner, Klopp Norman, Illig Thomas, Graw Jochen
Primary Institution: Center of Ophthalmology, Universities of Gießen and Marburg
Hypothesis
The study aims to characterize the underlying mutation in a consanguineous family having cataracts.
Conclusion
The ins776G mutation most likely causes a recessive triangular cataract with variable expressivity of a weak phenotype in heterozygotes.
Supporting Evidence
- The proband has a dense, triangular nuclear cataract.
- The mutation was confirmed in the genomic DNA of the proband and her brother.
- The mutation could not be detected in 96 healthy controls from Germany.
Takeaway
A family with cataracts was studied, and a specific mutation in a gene called GJA8 was found to cause a type of cataract that can be passed down in families.
Methodology
Lens material was collected from surgeries, and DNA was analyzed using PCR and sequencing.
Limitations
The small size of the family limited the ability to perform genome-wide mapping.
Participant Demographics
The family is consanguineous, with members from central Turkey.
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