Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.
OBJECTIVE
To identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing.


METHODS
A total of 371 known genes related to inherited eye diseases of the proband was selected and captured, followed by high-throughput sequencing. The sequencing data were analyzed by established bioinformatics pipeline. Validation was performed by Sanger sequencing.


RESULTS
A recurrent heterozygous non-synonymous mutation c.130G>A (p.V44M) in the GJA3 gene was identified in the proband. The result was confirmed by Sanger sequencing. The mutation showed co-segregation with the disease phenotype in the family but was not detected in unaffected controls.


CONCLUSIONS
Targeted exome sequencing is a rapid, high-throughput and cost-efficient method for screening known genes and could be applied to the routine gene diagnosis of congenital cataract.
Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, China.
Ming-Fu
MF
Ma
Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, China.
Lian-Bing
LB
Li
Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing 400016, China.
Yun-Qi
YQ
Pei
Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing 400016, China.
Zhi
Z
Cheng
congenital cataract; genetic diagnosis; targeted exome sequencing