A novel MC4R deletion coexisting with FTO and MC1R gene variants, causes severe early onset obesity

Vassos Neocleous, Christos Shammas, Marie M. Phelan, Pavlos Fanis, Maria Pantelidou, Nicos Skordis, Christos Mantzoros, Leonidas A. Phylactou, Meropi Toumba

Download PDF

OBJECTIVE: Heterozygous mutations on the melanocortin-4-receptor gene (MC4R) are the most frequent cause of monogenic obesity. We describe a novel MC4R deletion in a girl with severe early onset obesity, tall stature, pale skin and red hair. CASE REPORT: Clinical and hormonal parameters were evaluated in a girl born full-term by non-consanguineous parents …