Fig. 6: Screening of obesity and populational cohorts for ASIP mutations.
a, Cohort of patients originally suspected for POMC deficiency (n = 20) from the University of Berlin and the Leipzig Childhood Obesity cohort were analyzed for copy numbers of the genomic ITCH–ASIP fusion sequence normalized to the copy numbers of β-actin. Patients A–E were identified with ASIP mutations. Samples from the index patient (patient A, red) were used as a positive control. A patient not harboring the ASIP mutation served as control. Data are given as fold change compared to patient A. b, ASIP gene expression in PBLs of patients normalized to β-actin and TATA-box-binding protein. Data are given as fold change to the control patients (consisting of the twin of patient E, the mother of patient A and three patients of the Leipzig Childhood Obesity cohort). c, Comparison of BMI SDS and height SDS of patients with ASIP mutation (as indicated) with healthy population (n = 1,868; male n = 908; mean age 10.0 years; open black) and with Leipzig Obesity Childhood cohort (n = 1,734; male n = 861; mean age 11.6 years; open red) shown as violin plots with median and quartiles indicated as dashed and dotted lines, respectively. Patients with ASIP mutation have significantly higher height SDS (P = 0.0419 on two-sided Mann–Whitney U-test).
