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zilin zhong, ZHAOHUAN FAN, LIYUN HAN, JIANJUN CHEN; Mutation analysis of CRYBA1 gene in 185 Chinese families with congenital cataracts. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4833. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Pediatric cataract is the most common form of treatable childhood blindness and is both clinically and genetically heterogeneous. This study is aimed at identification of the mutations in CRYBA1 gene in congenital cataracts patients in a Chinese population.
One hundred and eighty-five families with congenital cataracts involved in this study. The coding exons and adjacent intronic regions of CRYBA1 gene were analyzed by cycle sequencing.
DNA sequencing of the gene revealed a c.272_274delGAG mutation in exon 4, which resulted in a glycine residue deletion at position 91 (p.G91del). This mutation was identified in all of the affected individuals in these two families but was not found in the 192 control chromosomes. Lens examinations in ten affected members showed bilateral nuclear cataracts in Family 1 while another two affected sibling of Family 2 displayed bilateral lamellar cataract.
Our results identify that the c.272_274delGAG mutation in CRYBA1 is responsible for the autosomal dominant congenital nuclear or lamellar cataract disease in these two Chinese families.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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