A new mutation in BFSP2 (G1091A) causes autosomal dominant congenital lamellar cataracts
2008
New Mutation in BFSP2 Causes Congenital Cataracts
Sample size: 73
publication
Evidence: high
Author Information
Author(s): Ma Xu, Li Fei-Feng, Wang Shu-Zhen, Gao Chang, Zhang Meng, Zhu Si-Quan
Primary Institution: Beijing Tongren Eye Center, Capital Medical University
Hypothesis
The study aimed to identify the genetic defect in a family with congenital lamellar cataracts.
Conclusion
The mutation P.R339H in the BFSP2 gene is linked to congenital lamellar cataracts in a Chinese family.
Supporting Evidence
- The mutation cosegregated with the disease phenotype in all affected individuals.
- The maximum LOD score was 7.22, indicating strong linkage.
- The mutation was not found in unaffected family members or 100 normal controls.
Takeaway
A family with cataracts was studied, and scientists found a new gene change that causes the cataracts.
Methodology
Genotyping, linkage analysis, and sequencing were performed on family members.
Participant Demographics
Four-generation Chinese family with 17 affected individuals.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
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