ey0020.9-7 | Genetic Obesity and Genetic Risk Score | ESPEYB20
JB Funcke
, B Moepps
, J Roos
, J von Schnurbein
, K Verstraete
, E Frohlich-Reiterer
, K Kohlsdorf
, A Nunziata
, S Brandt
, A Tsirigotaki
, A Dansercoer
, E Suppan
, B Haris
, KM Debatin
, SN Savvides
, IS Farooqi
, K Hussain
, P Gierschik
, P Fischer-Posovszky
, M Wabitsch
Brief summary: The authors provide the first description of antagonistic hormone mutations as the cause of congenital disease in humans. The paper describes detailed characterizations of two novel, antagonistic leptin mutations underlying a formerly unrecognized form of congenital leptin dysfunction and delineate the challenges these mutations pose to the diagnosis and therapy of the disease.After the initial description of biologically inactive leptin v...