Congenital leptin deficiency is associated with severe early-onset obesity in humans

Carl T. Montague, I. Sadaf Farooqi, Jonathan P. Whitehead, Maria A. Soos, Harald Rau, Nicholas J. Wareham, Ciaran P. Sewter, Janet E. Digby, Shehla N. Mohammed, Jane A. Hurst, Christopher H. Cheetham#, Alison R. Earley#, Anthony H. Barnett, Johannes B. Prins and Stephen O'Rahilly ()
Additional contact information
Carl T. Montague: University of Cambridge, Addenbrooke's Hospital
I. Sadaf Farooqi: University of Cambridge, Addenbrooke's Hospital
Jonathan P. Whitehead: University of Cambridge, Addenbrooke's Hospital
Maria A. Soos: University of Cambridge, Addenbrooke's Hospital
Harald Rau: University of Cambridge, Addenbrooke's Hospital
Nicholas J. Wareham: University of Cambridge, Addenbrooke's Hospital
Ciaran P. Sewter: University of Cambridge, Addenbrooke's Hospital
Janet E. Digby: University of Cambridge, Addenbrooke's Hospital
Shehla N. Mohammed: ‖South Thames Regional Genetics Centre (East), Guy's Hospital
Jane A. Hurst: ¶Oxford Regional Genetics Service, Churchill Hospital
Christopher H. Cheetham#: #Wycombe General Hospital
Alison R. Earley#: #Wycombe General Hospital
Anthony H. Barnett: University of Birmingham and Birmingham Heartlands Hospital
Johannes B. Prins: University of Cambridge, Addenbrooke's Hospital
Stephen O'Rahilly: University of Cambridge, Addenbrooke's Hospital

Nature, 1997, vol. 387, issue 6636, 903-908

Abstract: Abstract The extreme obesity of the obese (ob/ob) mouse is attributable to mutations in the gene encoding leptin1, an adipocyte-specific secreted protein which has profound effects on appetite and energy expenditure. We know of no equivalent evidence regarding leptin's role in the control of fat mass in humans. We have examined two severely obese children who are members of the same highly consanguineous pedigree. Their serum leptin levels were very low despite their markedly elevated fat mass and, in both, a homozygous frame-shift mutation involving the deletion of a single guanine nucleotide in codon 133 of the gene for leptin was found. The severe obesity found in these congenitally leptin-deficient subjects provides the first genetic evidence that leptin is an important regulator of energy balance in humans.

Date: 1997
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DOI: 10.1038/43185

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