期刊
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
卷 100, 期 9, 页码 3227-3230出版社
ENDOCRINE SOC
DOI: 10.1210/jc.2015-2263
关键词
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资金
- Federal Ministry of Education and Research [BMBF 01GI1120A]
- Wellcome Trust [082390/Z/07/Z]
- Medical Research Council
- National Institute for Health Research Cambridge Biomedical Research Centre
- European Research Council
- Bernard Wolfe Health Neuroscience Fund
- International Graduate School in Molecular Medicine Ulm
- Wellcome Trust [082390/Z/07/Z] Funding Source: Wellcome Trust
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 substitution in the leptin gene leading to a p.N103K amino acid exchange in the protein and detectable circulating levels of leptin. In vitro experiments in a heterologous cell system demonstrated that the mutated protein was biologically inactive. Treatment with sc recombinant human leptin led to rapid improvement of eating behavior and weight loss. Conclusions: Sequencing of the leptin gene may need to be considered in hyperphagic, severely obese children with detectable levels of circulating leptin.
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