Severe early-onset obesity due to bioinactive leptin caused by a p.N103K mutation in the leptin gene.

CONCLUSIONS: Sequencing of the leptin gene may need to be considered in hyperphagic, severely obese children with detectable levels of circulating leptin.
PMID: 26186301 [PubMed - as supplied by publisher]

Source: Diabetes Metab - July 17, 2015 Category: Endocrinology Authors: Wabitsch M, Funcke JB, von Schnurbein J, Denzer F, Lahr G, Mazen I, El-Gammal M, Denzer C, Moss A, Debatin KM, Gierschik P, Mistry V, Keogh JM, Farooqi IS, Moepps B, Fischer-Posovszky P Tags: J Clin Endocrinol Metab Source Type: research