AI Article Synopsis
- The study aimed to find the mutation spectrum of the CRYBA1/A3 gene and its correlation to congenital cataract in Chinese families.
- Out of 47 families studied, nuclear cataract was most prevalent, and a specific CRYBA1/A3 deletion mutation (ΔG91) was found in 6.4% of families with nonprogressive cases.
- The ΔG91 mutation appears to occur independently across families, suggesting it may be a common, significant mutation related to nonprogressive nuclear cataracts.
Article Abstract
Purpose: To identify the CRYBA1/A3 mutation spectrum and analyze the genotype-phenotype correlations in Chinese families with congenital cataract.
Methods: Family history and clinical data of 47 unrelated families with autosomal dominant congenital cataract (ADCC) were recorded. CRYBA1/A3 gene sequencing was applied to identify the causative mutation. Haplotypes were constructed using closely linked microsatellite markers and intragenic single-nucleotide polymorphisms (SNPs) to compare the affected haplotype in three families.
Results: Nuclear cataract was the most common type of ADCC in Chinese families, accounting for 42.6% (20/47). A recurrent CRYBA1/A3 deletion mutation (ΔG91) was identified in three families (6.4%) with nonprogressive nuclear congenital cataract. Different haplotypes segregated with the mutation in each family.
Conclusions: A recurrent ΔG91CRYBA1/A3 mutation occurs independently in 6.4% of the Chinese families with autosomal dominant nuclear cataracts and most likely represents a mutational hot spot, which underscores the relations between nonprogressive nuclear cataract and CRYBA1/A3.
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| http://dx.doi.org/10.1080/02713683.2017.1406527 | DOI Listing |
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