ea0029p217 | Calcium & Vitamin D metabolism | ICEECE2012
Yuno A.
, Usui T.
, Yambe Y.
, Higashi K.
, Yokota I.
, Mashio Y.
, Shinoda J.
, Shimatsu A.
Objective: Pseudohypoparathyroidism type 1b (PHP-1b) is rare disorders resulting from genetic and epigenetic aberrations in the GNAS locus. PHP-1b usually defined by isolated renal resistance to PTH, is due to a maternal loss of GNAS exonA/B methylation, leading to decreased Gsα expression in specific tissues. To clarify the usefulness of methylation specific multiplex ligation-dependent probe amplification (MS-MLPA), we evaluate the genetic and epigenetic changes o...