First-time application of droplet digital PCR for methylation testing of the 11p15.5 imprinting regions.

ABSTRACT:

Background

Beckwith-Wiedemann syndrome and Silver-Russel syndrome are two imprinting disorders caused by opposite molecular alterations in 11p15.5. With the current diagnostic tests, their molecular diagnosis is challenging due to molecular heterogeneity and mosaic occurrence of the most frequent alterations. As the determination of precise (epi)genotype of patients is relevant as the basis for a personalized treatment, different approaches are needed to increase the sensitivity of diagnostic testing of imprinting disorders.

Methods

We established methylation-specific droplet digital PCR approaches (MS-ddPCR) for the two imprinting centers in 11p15.5, and analyzed patients with paternal uniparental disomy of chromosome 11p15.5 (upd(11)pat) and other imprinting defects in the

SUBMITTER: Schlaich E 

PROVIDER: S-EPMC10724498 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature