Searchable abstracts of presentations at key conferences in endocrinology

ea0051oc5.2 | Oral Communications 5 | BSPED2017

The clinical and molecular spectrum associated with obesity-associated GNAS1 mutations

Talbot Fleur , de Mendes Edson , Keogh Julia , Henning Elana , Farooqi Sadaf

Heterozygous mutations in GNAS1, which encodes the Gαs protein involved in multiple signalling pathways, are classically associated with Albright’s Hereditary Osteodystrophy (AHO). GNAS1 is one of few genetic loci that undergo allelic-specific methylation resulting in the parent-specific expression of at least four different transcripts. The classic constellation of phenotypic features includes short stature, round face, brachydactyly, obesity, dental hypopl...