Published Research

Pediatric Obesity–Rare Genetic Causes

Styne DM, Arslanian SA, Connor EL, Farooqi IS, Murad MH, Silverstein JH, Yanovski JA. Pediatric Obesity—Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. J Clin Endocr Metab. 31 January 2017; 102(3): 709-757.

POMC Deficiency Obesity

Low, MJ. Neuroendocrinology: New Hormone Treatment for Obesity Caused by POMC-Deficiency. Nat Rev Endocrinol. 23 September 2016. doi:10.1038/nrendo.2016.156

Challis BG, Millington GWM. Proopiomelanocortin Deficiency. GeneReviews. December 13, 2013.

Baker M, Gaukrodger N, Mayosi BM, Imrie H, Farrall M, Watkins H, Connell JMC, Avery PJ, Keavney B. Association Between Common Polymorphisms of the Proopiomelanocortin Gene and Body Fat Distribution. Diabetes. Aug 2005; 54(8):2492-6.

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A. Severe Early-Onset Obesity, Adrenal Insufficiency and Red Hair Pigmentation Caused by POMC Mutations in Humans. Nat Genet. June 1998; 19(2):155-7.

Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kilpeläinen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SLR, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Canizales Quinteros S, Cooper C, Sayer AA, Jameson K, Grøntved A, Fornage M, Sidney S, Hanis CL, Highland HM, Häring H-U, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM, Pausova Z, Paus T, Grant SFA, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A, BioBank Japan, AGEN-BMI, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D. Contribution of Common Non-Synonymous Variants in PCSK1 to Body Mass Index Variation and Risk of Obesity: A Systematic Review and Meta-Analysis with Evidence from up to 331 175 Individuals. Hum Mol Genet. March 2015; 24(12):3582-3594.

Jackson RS, Creemers JWM, Ohagi S, Raffin-Sanson M-L, Sanders L, Montague CT, Hutton JC, O’Rahilly S. Obesity and Impaired Prohormone Processing Associated with Mutations in the Human Prohormone Convertase 1 Gene. Nat Genet. July 1997;16(3):303-6.

LEPR Deficiency Obesity

Huvenne H, Le Beyec J, Pépin D, Alili R, Pigeon Kherchiche P, Jeannic E, Frelut M-L, Lacorte J-M, Nicolino M, Viard A, Laville M, Ledoux S, Tounian P, Poitou C, Dubern B, and Clément K. Seven Novel Deleterious LEPR Mutations Found in Early-Onset Obesity: a Exon6–8 Shared by Subjects From Reunion Island, France, Suggests a Founder Effect. J Clin Endocrinol Metab. May 2015; 100(5): E757–E766.

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 Molecular Genetic Spectrum of Congenital Deficiency of the Leptin Receptor. N Engl J Med. 2007; 356:237-247.

Clément L, Vaisse C, Lahlou N, Cabrolk s, Pelloux V, Cassuto D, Gourmelenk M, Dina C, Chambaz J, Lacorte JM, Basdevant A, Bougnères P, Lebouck Y, Froguel P, Guy-Grand B. A Mutation in the Human Leptin Receptor Gene Causes Obesity and Pituitary Dysfunction. Nature. 1998; (392): 398-401.

Prader-Willi Syndrome

Schaaf CP, Gonzalez-Garay ML, Xia F, Potocki L, Gripp KW, Zhang B, Peters BA, McElwain MA, Drmanac R, Beaudet AL, Caskey CT, Yang Y. Truncating Mutations of MAGEL2 Cause Prader-Willi Phenotypes and Autism. Nat Genet. (November 2013) 45, 1405–1408.

Mercer RE, Michaelson SD, Chee MJS, Atallah TA, Wevrick1 R, Colmers WF. Magel2 is Required for Leptin-Mediated Depolarization of POMC Neurons in the Hypothalamic Arcuate Nucleus in Mice. PLOS Genet. 2013;9(1):e1003207. doi: 10.1371/journal.pgen.1003207. Epub 2013 Jan 17.

This program is supported by Rhythm, a Boston-based biopharmaceutical company developing the MC4R peptide agonist, setmelanotide (RM-493), for obesity caused by genetic deficiencies in the MC4 pathway.
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