Clinical Validation of a Genome-Wide DNA Methylation Assay for Molecular Diagnosis of Imprinting Disorders

Genomic imprinting involves a DNA methylation –dependent and parent-of-origin–specific regulation of gene expression. Clinical assays for imprinting disorders are genomic locus–, disorder-, and molecular defect–specific. We aimed to clinically validate a genome-wide approach for simultaneous testing of common imprinting disorders in a s ingle assay. Using genome-wide DNA methylation arrays, epigenetic profiles from peripheral blood of patients with Angelman, Prader-Willi, Beckwith-Wiedemann, and Silver-Russell syndrome were compared to a reference cohort of 361 unaffected individuals.
Source: Journal of Molecular Diagnostics - Category: Pathology Authors: Tags: Regular Article Source Type: research