Mutation in GJA8 Linked to Cataracts
Author Information
Author(s): Wang Li, Luo Yi, Wen Wen Zhang, Shenghai Lu, Yi Lu
Primary Institution: Eye and ENT hospital of Fudan University, Shanghai, China
Hypothesis
To identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract.
Conclusion
The study identified a missense mutation in the GJA8 gene associated with autosomal dominant congenital cataract in a Chinese family.
Supporting Evidence
- A missense mutation (c.139G>A) was detected in the GJA8 gene.
- The mutation co-segregated with all patients and was absent in 100 normal Chinese controls.
- The mutation is predicted to be destabilizing based on PoPMuSiC analysis.
Takeaway
Scientists found a change in a gene that can cause cataracts in some family members, which helps us understand why some people get cataracts.
Methodology
Genomic DNAs were obtained from eighteen family members, and candidate genes were sequenced using PCR and bidirectional sequencing.
Participant Demographics
A four-generation Chinese family with five affected members.
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