A Novel Familial PHP1B Variant With Incomplete Loss of Methylation at GNAS-A/B and Enhanced Methylation at GNAS-AS2.

Patrick Hanna Bruno Francou Brigitte Delemer Harald Jüppner Agnès Linglart

Published in: The Journal of clinical endocrinology and metabolism (2021)

The distinct methylation changes at the novel GNAS-AS2:TSS-DMR will help characterize further different PHP1B/iPPSD3 variants and will guide the search for underlying genetic defects, which may provide novel insights into the mechanisms underlying GNAS methylation.

Keyphrases

genome wide
dna methylation
copy number
gene expression
early onset