ea0003oc27 | Metabolism | BES2002
Gurnell M
, Savage D
, Agostini M
, Barroso I
, Rajanayagam O
, Soos M
, Ross R
, Schafer A
, O'Rahilly S
, Chatterjee V
We have previously reported dominant negative missense mutations (P467L, V290M) in human PPAR gamma (peroxisome proliferator-activated receptor gamma) in association with severe insulin resistance, early onset type 2 diabetes and hypertension. In a large UK kindred, where the proband presented at age 15 years with severe insulin resistance (acanthosis nigricans, hyperinsulinaemia, PCOS), we have identified a novel heterozygous frameshift premature stop mutation in the PPAR gam...