Mutation in CRYGC Linked to Cataracts
Author Information
Author(s): Zhang Lu, Fu Songbin, Ou Yangshan, Zhao Tingting, Su Yunjuan, Liu Ping
Primary Institution: Harbin Medical University
Hypothesis
To identify a novel mutation in CRYGC associated with congenital cataracts in a Chinese family.
Conclusion
A novel nonsense mutation in CRYGC was found to be associated with autosomal dominant cataracts and microcornea.
Supporting Evidence
- Linkage analysis showed a LOD score of 2.29 at marker D2S325.
- The mutation c.470G>A was not found in 100 normal controls.
- The mutation cosegregated with cataracts in the family.
Takeaway
Scientists found a change in a gene that causes cataracts in some people in a family. This change stops the gene from working properly.
Methodology
Linkage analysis and DNA sequencing were performed on a four-generation family with cataracts.
Limitations
The study was limited to a single family, which may not represent the broader population.
Participant Demographics
Chinese family with four generations, including six affected members.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
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