Clinical case seminar: Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-γ

Journal of Clinical Endocrinology and Metabolism

Volumn 92, Issue 5, 2007, Pages 1606-1612

  Monajemi, Houshang ^a   Zhang, Lin ^b   Li, Gang ^b   Jeninga, Ellen H ^c   Cao, Henian ^d   Maas, Mario ^a   Brouwer, C B ^e   Kalkhoven, Eric ^c   Stroes, Erik ^a   Hegele, Robert A ^d   Leff, Todd ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ROBARTS RESEARCH INSTITUTE   (Canada)

^e ONZE LIEVE VROUWE GASTHUIS   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CIPROFIBRATE; CYPROTERONE; FIBRIC ACID DERIVATIVE; INSULIN; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; TRYPTOPHAN; ARGININE; DNA; ZINC FINGER PROTEIN;

ADULT; CASE REPORT; CHILDHOOD DISEASE; CONFERENCE PAPER; DIABETES MELLITUS; DNA BINDING; DRUG DOSE INCREASE; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; LIPODYSTROPHY; METABOLIC DISORDER; PANCREATITIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; ZINC FINGER MOTIF; ANIMAL; ARTICLE; CELL CULTURE; DOMINANT GENE; EXON; GEL MOBILITY SHIFT ASSAY; GENETICS; METABOLISM; MOLECULAR CLONING; MOUSE; NUCLEAR MAGNETIC RESONANCE IMAGING; POINT MUTATION;

ADULT; ANIMALS; ARGININE; CELLS, CULTURED; CLONING, MOLECULAR; DNA; ELECTROPHORETIC MOBILITY SHIFT ASSAY; EXONS; FEMALE; GENES, DOMINANT; HUMANS; LIPODYSTROPHY, FAMILIAL PARTIAL; MAGNETIC RESONANCE IMAGING; MICE; PHENOTYPE; POINT MUTATION; PPAR GAMMA; TRANSCRIPTION, GENETIC; TRYPTOPHAN; ZINC FINGERS;

EID: 34249852935     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2006-1807     Document Type: Conference Paper

References (23)

1. Hegele RA 2003 Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome. Trends Endocrinol Metab 14:371-377
2. Agarwal AK, Garg A 2006 Genetic basis of lipodystrophies and management of metabolic complications. Annu Rev Med 57:297-311
3. Kobberling J, Dunnigan MG 1986 Familial partial lipodystrophy: two types of an X linked dominant syndrome, lethal in the hemizygous state. J Med Genet 23:120-127
4. Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby AM, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Vidal-Puig A, Karpe F, Chatterjee VK, O'Rahilly S 2003 Human metabolic syndrome resulting from dominant-negative mutations in the nuclear receptor peroxisome proliferator-activated receptor-γ. Diabetes 52:910-917
5. Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T 2002 PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes 51:3586-3590
6. Hegele RA, Ur E, Ransom TP, Cao H 2006 A frameshift mutation in peroxisome-proliferator-activated receptor-gamma in familial partial lipodystrophy subtype 3 (FPLD3; MIM 604367). Clin Genet 70:360-362
7. Francis GA, Li G, Casey R, Wang J, Cao H, Leff T, Hegele RA 2006 Peroxisomal proliferator activated receptor-γdeficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med Genet 7:3
8. Barroso I, Gurnell M, Crowley VE, Agostini M, Schwabe JW, Soos MA, Maslen GL, Williams TD, Lewis H, Schafer AJ, Chatterjee VK, O'Rahilly S 1999 Dominant negative mutations in human PPARγ associated with severe insulin resistance, diabetes mellitus and hypertension. Nature 402:880-883
9. Agarwal AK, Garg A 2002 A novel heterozygous mutation in peroxisome proliferator-activated receptor-γ gene in a patient with familial partial lipodystrophy. J Clin Endocrinol Metab 87:408-411
10. Rosen ED, Sarraf P, Troy AE, Bradwin G, Moore K, Milstone DS, Spiegelman BM, Mortensen RM 1999 PPAR γ is required for the differentiation of adipose tissue in vivo and in vitro. Mol Cell 4:611-617
11. Barak Y, Nelson MC, Ong ES, Jones YZ, Ruiz-Lozano P, Chien KR, Koder A, Evans RM 1999 PPAR γ is required for placental, cardiac, and adipose tissue development. Mol Cell 4:585-595
12. Al-Shali K, Cao H, Knoers N, Hermus AR, Tack CJ, Hegele RA 2004 A single-base mutation in the peroxisome proliferator-activated receptor γ4 promoter associated with altered in vitro expression and partial lipodystrophy. J Clin Endocrinol Metab 89:5655-5660
13. Kalkhoven E, Valentine JE, Heery DM, Parker MG 1998 Isoforms of steroid receptor co-activator 1 differ in their ability to potentiate transcription by the oestrogen receptor. EMBO J 17:232-243
14. Kalkhoven E, Teunissen H, Houweling A, Verrijzer CP, Zantema A 2002 The PHD type zinc finger is an integral part of the CBP acetyltransferase domain. Mol Cell Biol 22:1961-1970
15. Beitel LK, Kazemi-Esfarjani P, Kaufman M, Lumbroso R, DiGeorge AM, Killinger DW, Trifiro MA, Pinsky L 1994 Substitution of arginine-839 by cysteine or histidine in the androgen receptor causes different receptor phenotypes in cultured cells and coordinate degrees of clinical androgen resistance. J Clin Invest 94:546-554
16. Ruiz M, Lind U, Gafvels M, Eggertsen G, Carlstedt-Duke J, Nilsson L, Holtmann M, Stierna P, Wikstrom AC, Werner S 2001 Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance. Clin Endocrinol (Oxf) 55:363-371
17. Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC 2000 Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet 24:127-131
18. Hayashi T, Gekka T, Goto-Omoto S, Takeuchi T, Kubo A, Kitahara K 2005 Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology 112:2115
19. Ristow M, Muller-Wieland D, Pfeiffer A, Krone W, Kahn CR 1998 Obesity associated with a mutation in a genetic regulator of adipocyte differentiation. N Engl J Med 339:953-959
20. Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, Smith A, Rajanayagam O, Semple R, Luan J, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais D, Schwabe J, Barroso I, Trembath R, Wareham N, Nagy L, Gurnell M, O'Rahilly S, Chatterjee K 2006 Non-DNA binding, dominant-negative, human PPAR mutations cause lipodystrophic insulin resistance. Cell Metab 4:303-311
21. Jeninga EH, van Beekum O, van Dijk AD, Hamers N, Hendriks-Stegeman BI, Bonvin AM, Berger R, Kalkhoven E 2007 Impaired PPARγ function through mutation of a conserved salt bridge (R425C) in familial partial lipodystrophy. Mol Endocrinol 21:1049-1065
22. Hegele RA 2005 Lessons from human mutations in PPARγ. Int J Obes (Lond) 29(Suppl 1):S31-S35
23. Dunnigan MG, Cochrane MA, Kelly A, Scott JW 1974 Familial lipoatrophic diabetes with dominant transmission. A new syndrome. Q J Med 43:33- 48