Genetic Screening for Melanocortin-4 Receptor Mutations in a Cohort of Italian Obese Patients: Description and Functional Characterization of a Novel Mutation

• Published in: The journal of clinical endocrinology and metabolism Vol. 89; no. 2; pp. 904 - 908
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Bethesda, MD Oxford University Press 01.02.2004; Copyright by The Endocrine Society; Endocrine Society
• Subjects: Adolescent; Adult; Aged; Amino Acid Sequence - genetics; Animals; Biological and medical sciences; Child; Chlorocebus aethiops; Cohort Studies; COS Cells; Cyclic AMP; Endocrinopathies; Female; Fundamental and applied biological sciences. Psychology; Gene polymorphism; Genetic screening; Genetic Testing; Glutamic Acid - genetics; Heterozygote; Humans; Italy; Lysine - genetics; Male; Medical sciences; Melanocortin; Middle Aged; Missense mutation; Mutation; Mutation - genetics; Mutation - physiology; Mutation, Missense; Obesity; Obesity - genetics; Pedigree; Phenotypes; Phenylalanine - genetics; Receptor, Melanocortin, Type 4 - genetics; Serine - genetics; Vertebrates: endocrinology; Italy; Europe; Human; Obesity; Cohort study; Nutrition disorder; Genetics; Mutation; Medical screening; Endocrinology; Nutritional status; Melanocortin receptor

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 (Val103Ile and Ile251Leu...