Endocrine Abstracts

The melanocortin-4-receptor (MC4R) plays an important role in body weight regulation. Mutations in the MC4R gene are the most common genetic cause for obesity. The most frequent Northern European mutation is Y35X, associated with D37V on the same allele. Furthermore, there are two variants with a relatively high frequency: V103I and S127L. In rare cases, we identified the variants V103I and S127L on the same allele. The occurrence of two variants on the same allele makes a fou...