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January to March 2020 | Vol. 13 | Issue 1 | 02-05
Melanocortin 4 Receptor (MC4R) Gene Associated Severe Obesity in an Indian Child: Report of Novel Variants
Dr Parag M Tamhankar
Centre for Medical Genetics, Mumbai, India
Address for Correspondence Email: paragtmd2@gmail.com
Monogenic obesity syndromes are a group of Mendelian diseases that cause childhood obesity and are linked to genes in the leptin- melanocortin pathway. Families with biallelic MC4R gene mutations are rare. We describe a seventeen-year-old girl with severe obesity, diabetes, hyperinsulinemia, hypercholesterolemia, primary amenorrhea, polycystic ovary and acanthosis nigricans. Clinical exome analysis identified compound heterozygosity for variants p.(Cys84Tyr) and p.(Leu300Pro) in the MC4R gene encoding the melanocortin 4 receptor protein in the patient. Father was heterozygous for the p.(Leu300Pro) variant and mother was heterozygous for the p.(Cys84Tyr) variant. The patient’s obesity did not respond to dietary and exercise management although the glucose control and lipid profile improved. The patient’s parents were also obese but less severely affected (body mass index of father 39.2 and of mother 38.2).
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