September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Mutation analysis of CRYBA1 gene in 185 Chinese families with congenital cataracts
Author Affiliations & Notes
  • zilin zhong
    Shanghai Tenth People's Hospital, Shanghai, Shanghai, China
    Tongji University, SHANGHAI, China
  • ZHAOHUAN FAN
    Shanghai Tenth People's Hospital, Shanghai, Shanghai, China
    Tongji University, SHANGHAI, China
  • LIYUN HAN
    Shanghai Tenth People's Hospital, Shanghai, Shanghai, China
    Tongji University, SHANGHAI, China
  • JIANJUN CHEN
    Shanghai Tenth People's Hospital, Shanghai, Shanghai, China
    Tongji University, SHANGHAI, China
  • Footnotes
    Commercial Relationships   zilin zhong, None; ZHAOHUAN FAN, None; LIYUN HAN, None; JIANJUN CHEN, None
  • Footnotes
    Support  the National Key Basic Research Program of China 2015CB964601, the National Natural Science Foundation of China 81371062,
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 4833. doi:
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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.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : 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.

Methods : 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.

Results : 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.

Conclusions : 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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