ea0035p148 | Calcium and Vitamin D metabolism | ECE2014
Colson Cindy
, Richard Nicolas
, Decamp Mathieu
, Abeguile Genevieve
, Gruchy Nicolas
, Kottler Marie-Laure
Patients affected by pseudohypoparathyroidism type 1b (PHP-1b) develop resistance to PTH leading to hypocalcemia and hyperphosphoremia, which is often associated with resistance to TSH. PHP-Ib is associated with methylation changes at one or several differentially methylated regions (DMRs) within the GNAS complex locus, located at 20q13.213.3. This locus gives rise to several different transcripts (NESP55, XL, A/B), with varying patterns of expression depending on the pa...