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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

SUBMITTER: Zhou Y

PROVIDER: S-EPMC5153472 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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A Novel <i>CRYBB2</i> Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family.

Zhou Yu Y Zhai Yaru Y Huang Lulin L Gong Bo B Li Jie J Hao Fang F Wu Zhengzheng Z Shi Yi Y Yang Yin Y

Journal of ophthalmology 20161129

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 perf ...[more]

PMID: 28025620

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