hrp0097p2-57 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Heterozygous mutations in SETD5 are associated with bone fragility

Blaschitz Alexandra , Aischwarya Rao Avula , Castiglioni Claudia , Balasubramanian Meena

Background: SET domain-containing 5 (SETD5) is an uncharacterized member of the protein lysine methyltransferase family, a group best known for its ability to methylate their substrate and, by that, regulate gene expression. Heterozygous pathogenic variants in SETD5 are known to cause neurodevelopmental delay. We present two children with pathogenic variants in SETD5 and vertebral fractures with low bone mass. Individual 1 This 15-year old male of Caucasian an...

hrp0086p2-p181 | Bone & Mineral Metabolism P2 | ESPE2016

Pseudohypoparathyroidism Type IB Associated to Assisted Reproductive Technologies: Case Report

Fernandez Monica , Riquelme Joel , Castiglioni Claudia , Jueppner Harald W , Mericq Veronica

Background: Pseudohypoparathyroidism type Ib (PHP-Ib) is due to a maternal loss of GNAS exon A/B methylation and leads to decreased expression of the stimulatory G protein (Gsα) in specific tissues. Evidence suggests an increased incidence of imprinting disorders in children conceived by Assisted Reproductive Technologies (ART). Nevertheless, no associations between ART and PHP – Ib have been found to date.Clinical case: 7.4-years-old male with...