The Congenital Cataracts Panel is a comprehensive next-generation sequencing (NGS) panel that can be used to confirm a clinical diagnosis of congenital cataracts or identify at-risk individuals.
Congenital cataracts are lens opacities that are present from birth. Hereditary congenital cataracts are caused by pathogenic changes in genes that encode proteins related to cell transparency. Congenital cataracts may appear in isolation, or as part of a syndrome, and the degree of vision loss is variable between individuals.
This panel includes genes associated with:
The prevalence of congenital cataract is estimated to be 1-15 in 10,000, with 1/4 to 1/3 of cases considered to be hereditary (Yi et al, 2011).
Inheritance and Penetrance
Congenital cataracts are inherited in autosomal dominant, autosomal recessive, and X-linked fashions. Penetrance is typically high.
Pathogenic variants can be identified in approximately 40% of congenital cataract cases (Reis et al, 2013; Sun et al 2011). The Congenital Cataracts Panel includes all of the common genetic causes related to this disease.
Methodology and Analytical Sensitivity
Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent flanking bases, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of a single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity and specificity of the assay is >99%.
Indications for Testing
- Confirmation of a clinical diagnosis
- Risk assessment for asymptomatic family members of proband with molecular diagnosis of congenital cataracts
Included Genes (38)
Additions to the Congenital Cataracts Panel
Emerging evidence genes can also be added to the Congenital Cataracts Panel. These genes do not have a clear association with congenital cataracts, but emerging evidence suggests that they may play a role in disease pathogenesis:
Emerging Evidence Genes (6)
- Yi J, Yun J, Li ZK, Xu CT, Pan BR. Epidemiology and molecular genetics of congenital cataracts. Int J Ophthalmol. 2011;4(4):422-32.
- Reis LM, Tyler RC, Muheisen S, et al. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. Hum Genet. 2013;132(7):761-70.
- Sun W, Xiao X, Li S, Guo X, Zhang Q. Mutation analysis of 12 genes in Chinese families with congenital cataracts. Mol Vis. 2011;17:2197-206.