New Genetic Variant Linked to Cataracts in a Brazilian Family
Author Information
Author(s): de Figueirêdo Eugênio Santana, Giordano Gabriel Gorgone, Tavares Anderson, da Silva Márcio José, de Vasconcellos José Paulo Cabral, Arieta Carlos Eduardo Leite, de Melo Mônica Barbosa
Primary Institution: University of Campinas - UNICAMP
Hypothesis
To describe a novel polymorphism in the γD-crystallin (CRYGD) gene in a Brazilian family with congenital cataract.
Conclusion
A novel rare variant in CRYGD (Y134C) was detected in a Brazilian family with congenital cataract, but it is likely not the cause of the disease due to lack of segregation.
Supporting Evidence
- The proband had bilateral lamellar cataract and the phenotypes were classified by slit lamp examination.
- A heterozygous A→G transversion at c.401 position was identified, resulting in a Y134C substitution.
- The variant was absent in 100 chromosomes of 50 unrelated controls.
Takeaway
Scientists found a new change in a gene related to cataracts in a Brazilian family, but it doesn't seem to be the reason why they have cataracts.
Methodology
The study analyzed a four-generation Brazilian family with congenital cataract using genomic DNA extraction and sequencing of specific crystallin genes.
Limitations
The Y134C variant did not segregate with the disease in the family, suggesting other genetic factors may be involved.
Participant Demographics
The study involved a Brazilian family of four generations with 8 affected and 30 unaffected members.
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