Article
Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin Gene.
The Journal of clinical endocrinology and metabolism - 1 Sept 2015
Wabitsch Martin, Funcke Jan-Bernd, von Schnurbein Julia, Denzer Friederike, Lahr Georgia, Mazen Inas, El-Gammal Mona, Denzer Christian, Moss Anja, Debatin Klaus-Michael, Gierschik Peter, Mistry Vanisha, Keogh Julia M, Farooqi I Sadaf, Moepps Barbara, Fischer-Posovszky Pamela
Abstract excerpt
CONTEXT: Congenital leptin deficiency is a very rare cause of severe early-onset obesity. We recently characterized a mutation in the leptin gene (p.D100Y), which was associated with detectable leptin levels and bioinactivity of the hormone. CASE DESCRIPTION: We now describe two siblings, a 9-year-old girl and a 6-year-old boy with severe early-onset obesity and hyperphagia, both homozygous for a c.309C>A...
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