Leptin Receptor Deficiency

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Xu, C. Leptin Receptor Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4577 (accessed on 29 September 2026).

Xu C. Leptin Receptor Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4577. Accessed September 29, 2026.

Xu, Camila. "Leptin Receptor Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4577 (accessed September 29, 2026).

Xu, C. (2020, December 24). Leptin Receptor Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4577

Xu, Camila. "Leptin Receptor Deficiency." Encyclopedia. Web. 24 December, 2020.

Leptin Receptor Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/leptin-receptor-deficiency

Leptin receptor deficiency is a condition that causes severe obesity beginning in the first few months of life.

genetic conditions

References

Andiran N, Celik N, Andiran F. Homozygosity for two missense mutations in the leptin receptor gene (P316:W646C) in a Turkmenian girl with severe early-onsetobesity. J Pediatr Endocrinol Metab. 2011;24(11-12):1043-5.
Clément K, Vaisse C, Lahlou N, Cabrol S, Pelloux V, Cassuto D, Gourmelen M,Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouc Y, Froguel P,Guy-Grand B. A mutation in the human leptin receptor gene causes obesity andpituitary dysfunction. Nature. 1998 Mar 26;392(6674):398-401.
Dubern B, Clement K. Leptin and leptin receptor-related monogenic obesity.Biochimie. 2012 Oct;94(10):2111-5. doi: 10.1016/j.biochi.2012.05.010.
Farooqi IS, Wangensteen T, Collins S, Kimber W, Matarese G, Keogh JM, Lank E, Bottomley B, Lopez-Fernandez J, Ferraz-Amaro I, Dattani MT, Ercan O, Myhre AG,Retterstol L, Stanhope R, Edge JA, McKenzie S, Lessan N, Ghodsi M, De Rosa V,Perna F, Fontana S, Barroso I, Undlien DE, O'Rahilly S. Clinical and moleculargenetic spectrum of congenital deficiency of the leptin receptor. N Engl J Med.2007 Jan 18;356(3):237-47.
Kimber W, Peelman F, Prieur X, Wangensteen T, O'Rahilly S, Tavernier J,Farooqi IS. Functional characterization of naturally occurring pathogenicmutations in the human leptin receptor. Endocrinology. 2008 Dec;149(12):6043-52. doi: 10.1210/en.2008-0544.
Lee YS. The role of leptin-melanocortin system and human weight regulation:lessons from experiments of nature. Ann Acad Med Singap. 2009 Jan;38(1):34-11.Review.
Mazen I, El-Gammal M, Abdel-Hamid M, Farooqi IS, Amr K. Homozygosity for anovel missense mutation in the leptin receptor gene (P316T) in two Egyptiancousins with severe early onset obesity. Mol Genet Metab. 2011 Apr;102(4):461-4. doi: 10.1016/j.ymgme.2010.12.013.
Wasim M, Awan FR, Najam SS, Khan AR, Khan HN. Role of Leptin Deficiency,Inefficiency, and Leptin Receptors in Obesity. Biochem Genet. 2016Oct;54(5):565-72. doi: 10.1007/s10528-016-9751-z.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

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