An overview of mongenic and syndromic obesities in humans

Pediatric Blood and Cancer

Volumn 58, Issue 1, 2012, Pages 122-128

  Chung, Wendy K ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

16p11.2 deletion; Alstrom syndrome; Bardet Biedl syndrome; Leptin; Leptin receceptor; Melanocortin 4 receptor; Prader Willi syndrome

Indexed keywords

ADAPTOR PROTEIN; AGOUTI PROTEIN; ALMS1 PROTEIN; BBS8 PROTEIN; BRAIN DERIVED NEUROTROPHIC FACTOR; CARBOXYPEPTIDASE H; INSULIN; LEPTIN; LEPTIN RECEPTOR; MELANOCORTIN 4 RECEPTOR; PROOPIOMELANOCORTIN; PROPROTEIN CONVERTASE 1; PROTEIN; SH2B1 PROTEIN; UNCLASSIFIED DRUG;

ALSTROM SYNDROME; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BODY WEIGHT; CHILD; CHROMOSOME 16P; CHROMOSOME DELETION; ENERGY EXPENDITURE; FOOD INTAKE; GENE DELETION; GENETIC ASSOCIATION; HORMONAL REGULATION; HORMONE DEFICIENCY; HUMAN; LEPTIN DEFICIENCY; LOSS OF FUNCTION MUTATION; NON SYNDROMIC MONOGENIC OBESITY; NONHUMAN; OBESITY; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PROOPIOMELANOCORTIN DEFICIENCY; REVIEW; SYNDROMIC OBESITY; WAGR SYNDROME;

ADULT; BODY MASS INDEX; BODY WEIGHT; CHILD; EATING; HUMANS; OBESITY; OVERWEIGHT; PREVALENCE; UNITED STATES;

EID: 81155149432     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.23372     Document Type: Review

References (51)

1. Flegal KM, Carroll MD, Ogden CL, et al. Prevalence and trends in obesity among US adults, 1999-2000. JAMA 2002; 288: 1723-1727.
2. Hedley AA, Ogden CL, Johnson CL, et al. Prevalence of overweight and obesity among US children, adolescents, and adults, 1999-2002. JAMA 2004; 291: 2847-2850.
3. Woods SC, Seeley RJ, Porte D, Jr, et al. Signals that regulate food intake and energy homeostasis. Science 1998; 280: 1378-1383.
4. Allison DB, Faith MS, Nathan JS. Risch's lambda values for human obesity. Int J Obes Relat Metab Disord 1996; 20: 990-999.
5. Stunkard AJ, Foch TT, Hrubec Z. A twin study of human obesity. JAMA 1986; 256: 51-54.
6. Stunkard AJ, Harris JR, Pedersen NL, et al. The body-mass index of twins who have been reared apart. N Engl J Med 1990; 322: 1483-1487.
7. Zhang Y, Proenca R, Maffei M, et al. Positional cloning of the mouse obese gene and its human homologue. Nature 1994; 372: 425-432.
8. Montague CT, Farooqi IS, Whitehead JP, et al. Congenital leptin deficiency is associated with severe early-onset obesity in humans. Nature 1997; 387: 903-908.
9. Rau H, Reaves BJ, O'Rahilly S, et al. Truncated human leptin (delta133) associated with extreme obesity undergoes proteasomal degradation after defective intracellular transport. Endocrinology 1999; 140: 1718-1723.
10. Strobel A, Issad T, Camoin L, et al. A leptin missense mutation associated with hypogonadism and morbid obesity. Nat Genet 1998; 18: 213-215.
11. Farooqi IS, Matarese G, Lord GM, et al. Beneficial effects of leptin on obesity, T cell hyporesponsiveness, and neuroendocrine/metabolic dysfunction of human congenital leptin deficiency. J Clin Invest 2002; 110: 1093-1103.
12. Chua SC, Jr, Chung WK, Wu-Peng XS, et al. Phenotypes of mouse diabetes and rat fatty due to mutations in the OB (leptin) receptor. Science 1996; 271: 994-996.
13. Lee GH, Proenca R, Montez JM, et al. Abnormal splicing of the leptin receptor in diabetic mice. Nature 1996; 379: 632-635.
14. Tartaglia LA, Dembski M, Weng X, et al. Identification and expression cloning of a leptin receptor, OB-R. Cell 1995; 83: 1263-1271.
15. Phillips MS, Liu Q, Hammond HA, et al. Leptin receptor missense mutation in the fatty Zucker rat. Nat Genet 1996; 13: 18-19.
16. Wu-Peng XS, Chua SC, Jr, Okada N, et al. Phenotype of the obese Koletsky (f) rat due to Tyr763Stop mutation in the extracellular domain of the leptin receptor (Lepr): Evidence for deficient plasma-to-CSF transport of leptin in both the Zucker Koletsky obese rat. Diabetes 1997; 46: 513-518.
17. Bates SH, Myers MG, Jr. The role of leptin receptor signaling in feeding and neuroendocrine function. Trends Endocrinol Metab 2003; 14: 447-452.
18. Clement K, Ferre P. Genetics and the pathophysiology of obesity. Pediatr Res 2003; 53: 721-725.
19. Bultman SJ, Michaud EJ, Woychik RP. Molecular characterization of the mouse agouti locus. Cell 1992; 71: 1195-1204.
20. Rossi M, Kim MS, Morgan DG, et al. A C-terminal fragment of Agouti-related protein increases feeding and antagonizes the effect of alpha-melanocyte stimulating hormone in vivo. Endocrinology 1998; 139: 4428-4431.
21. Cheung CC, Clifton DK, Steiner RA. Proopiomelanocortin neurons are direct targets for leptin in the hypothalamus. Endocrinology 1997; 138: 4489-4492.
22. Huszar D, Lynch CA, Fairchild-Huntress V, et al. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell 1997; 88: 131-141.
23. Krude H, Biebermann H, Luck W, et al. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet 1998; 19: 155-157.
24. Krude H, Biebermann H, Schnabel D, et al. Obesity due to proopiomelanocortin deficiency: Three new cases and treatment trials with thyroid hormone and ACTH4-10. J Clin Endocrinol Metab 2003; 88: 4633-4640.
25. Buono P, Pasanisi F, Nardelli C, et al. Six novel mutations in the proopiomelanocortin and melanocortin receptor 4 genes in severely obese adults living in southern Italy. Clin Chem 2005; 51: 1358-1364.
26. Farooqi IS, Drop S, Clements A, et al. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes 2006; 55: 2549-2553.
27. Naggert JK, Fricker LD, Varlamov O, et al. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity. Nat Genet 1995; 10: 135-142.
28. Jackson RS, Creemers JW, Ohagi S, et al. Obesity and impaired proohormone processing associated with mutations in the human prohormone convertase 1 gene. Nat Genet 1997; 16: 303-306.
29. Jackson RS, Creemers JW, Farooqi IS, et al. Small-intestinal dysfunction accompanies the complex endocrinopathy of human proprotein convertase 1 deficiency. J Clin Invest 2003; 112: 1550-1560.
30. Farooqi IS, Keogh JM, Yeo GS, et al. Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. N Engl J Med 2003; 348: 1085-1095.
31. Vaisse C, Clement K, Durand E, et al. Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J Clin Invest 2000; 106: 253-262.
32. Farooqi IS, Yeo GS, Keogh JM, et al. Dominant and recessive inheritance of morbid obesity associated with melanocortin 4 receptor deficiency. J Clin Invest 2000; 106: 271-279.
33. Hinney A, Schmidt A, Nottebom K, et al. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J Clin Endocrinol Metab 1999; 84: 1483-1486.
34. Lubrano-Berthelier C, Cavazos M, Dubern B, et al. Molecular genetics of human obesity-associated MC4R mutations. Ann N Y Acad Sci 2003; 994: 49-57.
35. Schulze A, Mogensen H, Hamborg-Petersen B, et al. Fertility in Prader-Willi syndrome: A case report with Angelman syndrome in the offspring. Acta Paediatr 2001; 90: 455-459.
36. Boer H, Holland A, Whittington J, et al. Psychotic illness in people with Prader Willi syndrome due to chromosome 15 maternal uniparental disomy. Lancet 2002; 359: 135-136.
37. Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001; 2: 153-175.
38. Badano JL, Kim JC, Hoskins BE, et al. Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003; 12: 1651-1659.
39. Beales PL, Badano JL, Ross AJ, et al. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Am J Hum Genet 2003; 72: 1187-1199.
40. Ansley SJ, Badano JL, Blacque OE, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature 2003; 425: 628-633.
41. Alstrom CH, Hallgren B, Nilsson LB, et al. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: A specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: A clinical, endocrinological and genetic examination based on a large pedigree. Acta Psychiatr Neurol Scand Suppl 1959; 129: 1-35.
42. Marshall JD, Ludman MD, Shea SE, et al. Genealogy, natural history, and phenotype of Alstrom syndrome in a large Acadian kindred and three additional families. Am J Med Genet 1997; 73: 150-161.
43. Hearn T, Renforth GL, Spalluto C, et al. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome. Nat Genet 2002; 31: 79-83.
44. Collin GB, Marshall JD, Ikeda A, et al. Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Genet 2002; 31: 74-78.
45. Han JC, Liu QR, Jones M, et al. Brain-derived neurotrophic factor and obesity in the WAGR syndrome. N Engl J Med 2008; 359: 918-927.
46. Bochukova EG, Huang N, Keogh J, et al. Large, rare chromosomal deletions associated with severe early-onset obesity. Nature 2010; 463: 666-670.
47. Walters RG, Jacquemont S, Valsesia A, et al. A new highly penetrant form of obesity due to deletions on chromosome 16p11.2. Nature 2010; 463: 671-675.
48. Kumar RA, KaraMohamed S, Sudi J, et al. Recurrent 16p11.2 microdeletions in autism. Hum Mol Genet 2008; 17: 628-638.
49. Marshall CR, Noor A, Vincent JB, et al. Structural variation of chromosomes in autism spectrum disorder. Am J Hum Genet 2008; 82: 477-488.
50. Weiss LA, Shen Y, Korn JM, et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675.
51. Bell AJ, Bhate MS. Prevalence of overweight and obesity in Down's syndrome and other mentally handicapped adults living in the community. J Intellect Disabil Res 1992; 36: 359-364.