Melanocortin-4 Receptor Gene Mutations in a Group of Turkish Obese Children and Adolescents

• DOI: 10.4274/jcrpe.4225
• Publication Date: 2017-02-20T12:11:52Z
• Authors: Selma Tunç; Korcan Demir; Fatma Ajlan Tükün; Cihan Topal; Filiz Hazan; Burcu Sağlam; Özlem Nalbantoğlu; Melek Yıldız; Behzat Özkan
• Keywords: Melanocortin 4 receptor

What this study adds?What is already known on topic?Objective: Melanocortin-4 receptor (MC4R) mutations are the most common cause of monogenic obesity.Data regarding MC4R in Turkish subjects limited.To determine prevalence a group morbid obese children and adolescents.Methods: was sequenced 47 consecutive morbidly adolescents (28 girls 19 boys, aged 1-18 years) who presented during one-year period.Inclusion criterion body mass index (BMI) ≥120% 95 th percentile or ≥35 kg/m 2 .Patients with chronic diseases, Cushing syndrome, hypothyroidism, suspected syndromes that could obesity were excluded.Onset before age 10 years all subjects.Results: Mean 13.2±4.1 years, at onset 5.1±2.1 height standard deviation (SD) score 1.21±0.93,BMI 40.0±8.8kg/m , BMI SD 2.72±0.37.One novel (c.870delG) two previously reported (c.496 G>A, c.346_347delAG) found four (8.5%) adolescents.The mutation predicted to be diseasecausing frame-shift using silico analyses.Fasting glucose lipid levels patients normal, but insulin resistance present subjects.Six more individuals (1 child, 5 adults) detected following analyses family members affected children.Conclusion: frequently adolescents.