Article
Genetic screening for melanocortin-4 receptor mutations in a cohort of Italian obese patients: description and functional characterization of a novel mutation.
The Journal of clinical endocrinology and metabolism - 1 Feb 2004
Santini Ferruccio, Maffei Margherita, Ceccarini Giovanni, Pelosini Caterina, Scartabelli Giovanna, Rosellini Veronica, Chiellini Chiara, Marsili Alessandro, Lisi Simonetta, Tonacchera Massimo, Agretti Patrizia, Chiovato Luca, Mammoli Claudia, Vitti Paolo, Pinchera Aldo
Abstract excerpt
Mutations in the human melanocortin-4 receptor (MC4-R) gene may account for up to 5.8% of morbid nonsyndromic obesity. We have screened 120 unrelated obese patients for variants of the MC4-R gene. Four heterozygous missense variants were detected, including two polymorphisms (Val(103)Ile and Ile(251)Leu) previously described in the literature. A novel heterozygous mutation (Glu(308)Lys) was detected in a...
Topics
- Adolescent
- Adult
- Aged
- Amino Acid Sequence
- Animals
- COS Cells
- Child
- Chlorocebus aethiops
- Cohort Studies