Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2813658 | European Journal of Medical Genetics | 2016 | 4 Pages |
Abstract
We screened 60 known genes which are involved in inherited cataract in a pregnant woman with a four-generation family history of autosomal dominant congenital nuclear cataract through next-generation sequencing (NGS) and identified a heterozygous mutation, c.508dupC (p.L170fs), in the major intrinsic protein (MIP) gene. This mutation results in a frame-shift in MIP and has not been previously reported. The correlation of the mutation with disease was validated by Sanger sequencing of DNA from the other affected or unaffected members of the family. Therefore, our data expand the mutation spectrum of MIP mutation, and suggest that NGS is an accurate, rapid, and cost-effective method in the genetic diagnosis of congenital nuclear cataract.
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Authors
Litao Qin, Liangjie Guo, Hongdan Wang, Tao Li, Guiyu Lou, Qiannan Guo, Qiaofang Hou, Hongyan Liu, Shixiu Liao, Zhe Liu,