Searchable abstracts of presentations at key conferences in endocrinology

ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...