Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.

Abstract

To investigate whether pathogenic melanocortin-4 receptor (MC4R) mutations are a common cause of obesity in Belgium. Cross-sectional mutation analysis. In total, 95 morbidly obese adults (mean age 44.02+/-11.35 years; mean BMI 47.87+/-4.17 kg/m2 and 123 obese children and adolescents were screened for mutations in MC4R (mean age 16.56+/-2.58 years; BMI>95th percentile for age and sex; mean % overweight 170.86 +/- 23.63). A series of anthropometric (e.g. weight, height, waist, hip), biochemical and clinical measurements were performed on all subjects. The entire coding region of MC4R was screened using DHPLC, a highly sensitive and specific method for mutation analysis. Direct sequencing was performed when the chromatogram deviated from the WT pattern. Mutation screening of a cohort of Belgian obese adults and children did not detect any pathogenic mutations as only the previously described polymorphisms Val103Ile, Thr112Met and Ile251Leu were detected. Pathogenic mutations in MC4R are not a common cause of obesity in a Belgian population of obese adults, children and adolescents.