Genome-wide DNA methylation analysis of pseudohypoparathyroidism patients with GNAS imprinting defects.

ABSTRACT:

Background

Pseudohypoparathyroidism (PHP) is caused by (epi)genetic defects in the imprinted GNAS cluster. Current classification of PHP patients is hampered by clinical and molecular diagnostic overlaps. The European Consortium for the study of PHP designed a genome-wide methylation study to improve molecular diagnosis.

Methods

The HumanMethylation 450K BeadChip was used to analyze genome-wide methylation in 24 PHP patients with parathyroid hormone resistance and 20 age- and gender-matched controls. Patients were previously diagnosed with GNAS-specific differentially methylated regions (DMRs) and include 6 patients with known STX16 deletion (PHP(Δstx16)) and 18 without deletion (PHP(neg)).

Results

The array demonstrated that PHP patients do not show DNA methylation d

SUBMITTER: Rochtus A 

PROVIDER: S-EPMC4728790 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature