ArticleInternational journal of ophthalmology2016
Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.
Article in International journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.Molecular genetics & genomic medicine · 2022Article
- Comparison of clinical outcomes between the depot gonadotrophin-releasing hormone agonist protocol and gonadotrophin-releasing hormone antagonist protocol in normal ovarian responders.BMC pregnancy and childbirth · 2021Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing.
methodsA 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.
resultsA 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.
conclusionTargeted 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.
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