Searchable abstracts of presentations at key conferences in endocrinology

ea0059p053 | Bone and calcium | SFEBES2018

Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing

Warner Bronwen E , Pagnamenta Alistair T , Stevenson Mark , Lines Kate E , Ahmed S Faisal , Taylor Jenny C , Thakker Rajesh V

Pseudohypoparathyroidism (PHP) is due to parathyroid hormone (PTH) resistance that results in hypocalcaemia, hyperphosphataemia and elevated plasma PTH concentrations. Some PHP patients also have AlbrightÂ’s hereditary dystrophy (AHO), which is characterised by short stature, round faces, dental hypoplasia, brachydactyly, subcutaneous ossifications and reduced mental acuity. The 3 major types of PHP referred to as PHP type 1a (PHP1a), PHP1b and pseudopseudohypoparathyroidi...