TCF4 Repeat Expansion Testing

Description

Pathogenic CTG or CAG repeat expansions in the TCF4 gene have been associated with autosomal dominant Fuchs endothelial corneal dystrophy 3. The pathogenic repeat expansions are thought to result in formation of toxic RNA foci that accumulate in the corneal endothelial cells of affected individuals.

Pathogenicity is dependent upon CTG or CAG repeat length according to the following ranges ^1-4:

Note: As Fuchs endothelial corneal dystrophy 3 is typically adult onset, TCF4 repeat expansions are not reported in minors in comprehensive analyses.