hrp0094p2-78 | Bone, growth plate and mineral metabolism | ESPE2021

Deleting STX16 exon 4 to understand the genetic mechanisms underlying pseudohypoparathyroidism-1B and GNAS imprinting

AKSU CAGRI , Reyes Monica , Remillard Claire , He Qing , Bastepe Murat ,

Autosomal dominant pseudohypoparathyroidism type-Ib is characterized by renal parathyroid hormone resistance, with resultant hypocalcemia and hyperphosphatemia. This disorder is associated with an isolated loss of methylation at GNAS exon A/B and most patients carry maternal microdeletions in the neighboring STX16 gene. The shortest deletion overlap is a 1.2-kb region spanning STX16 exon 4 and thought to harbor a cis-acting element regulating GNAS A/B methylation. However, abl...