Table 1.

Molecular Genetic Testing Used in Congenital Stromal Corneal Dystrophy

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
DCN Sequence analysis 34 families 4
Gene-targeted deletion/duplication analysis 5Unknown 6
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4.

Bredrup et al [2005], Rødahl et al [2006], Kim et al [2011], Jing et al [2014]. In addition, Lee et al [2012] have reported a family with late onset of features resembling congenital stromal corneal dystrophy.

5.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include a range of techniques such as quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

6.

Congenital stromal corneal dystrophy is caused by aggregation or deposition of a truncated form of decorin. It is not clear if this is a gain-of-function mechanism (see Molecular Genetics). Large intragenic deletion or duplication has not been reported, and testing for intragenic deletions or duplication is therefore unlikely to identify a disease-causing variant.

From: Congenital Stromal Corneal Dystrophy

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