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- Martin Wabitsch, Jan-Bernd Funcke, Belinda Lennerz, Ursula Kuhnle-Krahl, Georgia Lahr, Klaus-Michael Debatin, Petra Vatter, Peter Gierschik, Barbara Moepps, and Pamela Fischer-Posovszky.
- From the Division of Pediatric Endocrinology and Diabetes (M.W., J.-B.F., B.L., P.F.-P.), Department of Pediatrics and Adolescent Medicine (G.L., K.-M.D.), and the Institute of Pharmacology and Toxicology (P.V., P.G., B.M.), University of Ulm, Ulm; and Endokrinologische Schwerpunktpraxis für Kinder- und Jugendliche, Gauting (U.K.-K.) - both in Germany.
- N. Engl. J. Med.. 2015 Jan 1;372(1):48-54.
AbstractMutations in the gene encoding leptin (LEP) typically lead to an absence of circulating leptin and to extreme obesity. We describe a 2-year-old boy with early-onset extreme obesity due to a novel homozygous transversion (c.298G→T) in LEP, leading to a change from aspartic acid to tyrosine at amino acid position 100 (p.D100Y) and high immunoreactive levels of leptin. Overexpression studies confirmed that the mutant protein is secreted but neither binds to nor activates the leptin receptor. The mutant protein failed to reduce food intake and body weight in leptin-deficient ob/ob mice. Treatment of the patient with recombinant human leptin (metreleptin) rapidly normalized eating behavior and resulted in weight loss.
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