A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.

Abstract:

:Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499T

journal_name

J Ophthalmol

journal_title

Journal of ophthalmology

authors

Zhou Y,Zhai Y,Huang L,Gong B,Li J,Hao F,Wu Z,Shi Y,Yang Y

doi

10.1155/2016/4353957

subject

Has Abstract

pub_date

2016-01-01 00:00:00

pages

4353957

eissn

2090-004X

issn

2090-0058

journal_volume

2016

pub_type

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