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A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family

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Abstract

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 βA1/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 (ΔG91) and could be associated with an incorrect folding of βA1/A3 crystallin. It highlights the physiological importance of crystallin and supports the role of CRYBA1/A3 in human cataracts formation.

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Acknowledgements

The authors are grateful to the families for their enthusiastic participation. We also acknowledge the financial support of the Natural Scientific Fund of Heilongjiang Provincial Scientific and Technical Bureau (Grant D0218).

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Authors and Affiliations

  1. Department of Ophthalmology, The Second Affiliated Hospital, Haerbin Medical University, Haerbin, 150086, Heilongjiang, P.R. China

    Yanhua Qi, Hongyan Jia, Hui Lin, Jingzhi Gu, Hong Su, Tieying Zhang, Ya Gao, Lijun Qu, Dandan Li & Ying Li

  2. Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, P.R. China

    Shangzhi Huang

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  1. Yanhua Qi
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  2. Hongyan Jia
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  3. Shangzhi Huang
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Correspondence to Yanhua Qi.

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Y. Qi and H. Jia contributed equally to this work

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Qi, Y., Jia, H., Huang, S. et al. A deletion mutation in the βA1/A3 crystallin gene (CRYBA1/A3) is associated with autosomal dominant congenital nuclear cataract in a Chinese family. Hum Genet 114, 192–197 (2004). https://doi.org/10.1007/s00439-003-1049-7

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  • DOI: https://doi.org/10.1007/s00439-003-1049-7

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