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Qi, Y. et al.

Qi, Jia, Huang, Lin, Gu, Su, Zhang, Gao, Qu, Li, Li,

A deletion mutation in the betaA1/ A3 crystallin gene ( CRYBA1/ A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Congenital cataracts are an important cause of blindness worldwide. In a family of Chinese descent, a dominant congenital nuclear cataract locus was mapped to chromosome 17q11.1-12. The maximum LOD score, 2.49, at recombination fraction 0, was obtained for marker D17S1294. The results of both linkage and haplotype analyses defined a disease-gene to an 11.78-cM region harboring the gene coding for betaA1/ A3 crystallin ( CRYBA1/ A3). Mutation analysis of the CRYBA1/ A3 gene identified a 3-bp deletion in exon 4, which cosegregated with the disease risk in this family and was not observed in 100 normal chromosomes. This mutation resulted in the deletion of a highly conserved glycine at codon 91 (DeltaG91) and could be associated with an incorrect folding of betaA1/ A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/ A3 in human cataracts formation.[1]

References

A deletion mutation in the betaA1/A3 crystallin gene ( CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Qi, Y., Jia, H., Huang, S., Lin, H., Gu, J., Su, H., Zhang, T., Gao, Y., Qu, L., Li, D., Li, Y. Hum. Genet. (2004) [Pubmed]

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