Phenotypic and Genetic Heterogeneity in Congenital Generalized Lipodystrophy

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 10, 2003, Pages 4840-4847

  Agarwal, Anil K ^a   Simha, Vinaya ^a   Oral, Elif Arioglu ^b   Moran, Stephanie A ^c   Gorden, Phillip ^c   O'Rahilly, Stephen ^d   Zaidi, Zohra ^e   Gurakan, Figen ^f   Arslanian, Silva A ^g   Klar, Aharon ^h   Ricker, Alyne ⁱ   White, Neil H ^j   Bindl, Lutz ^k   Herbst, Karen ^l   Kennel, Kurt ^m   Patel, Shailesh B ⁿ   Al Gazali, Lihadh ^o   Garg, Abhimanyu ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d ADDENBROOKE S HOSPITAL   (United Kingdom)

^e JINNAH POSTGRADUATE MEDICAL CENTRE   (Pakistan)

^f HACETTEPE UNIVERSITY   (Turkey)

^g UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^h BIKUR CHOLIM HOSPITAL   (Israel)

ⁱ HARVARD MEDICAL SCHOOL   (United States)

^j WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY HOSPITAL BONN   (Germany)

^l CHARLES R DREW UNIVERSITY OF MEDICINE AND SCIENCE   (United States)

^m MAYO CLINIC   (United States)

ⁿ MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^o UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

more..

Author keywords

[No Author keywords available]

Indexed keywords

1 ACYLGLYCEROL 3 PHOSPHATE O ACYLTRANSFERASE 2; ACYLTRANSFERASE; LEPTIN; UNCLASSIFIED DRUG;

ACANTHOSIS NIGRICANS; ADIPOSE TISSUE; ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 11Q; CHROMOSOME 9Q; DIABETES MELLITUS; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HYPERTRIGLYCERIDEMIA; LIPODYSTROPHY; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY; PEDIGREE; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL;

1-ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE; ACYLTRANSFERASES; CHROMOSOMES, HUMAN, PAIR 11; CHROMOSOMES, HUMAN, PAIR 9; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC HETEROGENEITY; GTP-BINDING PROTEIN GAMMA SUBUNITS; HETEROTRIMERIC GTP-BINDING PROTEINS; HUMANS; LINKAGE (GENETICS); LIPODYSTROPHY; MALE; MUTATION; PEDIGREE; PHENOTYPE;

EID: 10744220431     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2003-030855     Document Type: Article

References (23)

1. Seip M, Trygstad O 1996 Generalized lipodyatrophy, congenital and acquired (lipoatrophy). Acta Paediatr Suppl 413:2-28
2. Garg A 2000 Lipodystrophies. Am J Med 108:143-152
3. Agarwal AK, Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A 2002 AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet 31:21-23
4. Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl Jr T, Delepine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Megarbane A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S 2002 Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39:722-733
5. Case records of the Massachusetts General Hospital 1975 Weekly clinicopathological exercises. Case 1-1975. N Engl J Med 292:35-41
6. Chandalia M, Garg A, Vuitch F, Nizzi F 1995 Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab 80:3077-3081
7. Brunzell JD, Shankle SW, Bethune JE 1968 Congenital generalized lipodystrophy accompanied by cystic angiomatosis. Ann Intern Med 69:501-516
8. Guell-Gonzalez JR, Mateo de Acosta O, Alavez-Martin E, Arce-Hidalgo B, Navarro-Lauten A, Diaz-Diaz O 1971 Bone lesions in congenital generalised lipodystrophy. Lancet 2:104-105
9. Fleckenstein JL, Garg A, Bonte FJ, Vuitch MF, Peshock RM 1992 The skeleton in congenital, generalized lipodystrophy: evaluation using whole-body radiographic surveys, magnetic resonance imaging and technetium-99m bone scintigraphy. Skeletal Radiol 21:381-386
10. Rheuban KS, Blizzard RM, Parker MA, Carter T, Wilson T, Gutgesell HP 1986 Hypertrophic cardiomyopathy in total lipodystrophy. J Pediatr 109:301-302
11. Bjornstad PG, Foerster A, Ihlen H 1996 Cardiac findings in generalized lipodystrophy. Acta Paediatr Suppl 413:39-43
12. Bhayana S, Siu VM, Joubert GI, Clarson CL, Cao H, Hegele RA 2002 Cardiomyopathy in congenital complete lipodystrophy. Clin Genet 61:283-287
13. Magre J, Delepine M, Khallouf E, Gedde-Dahl Jr T, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J 2001 Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28:365-370
14. Misra A, Garg A 2003 Clinical features and metabolic derangements in acquired generalized lipodystrophy: case reports and review of the literature. Medicine 82:129-146
15. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus 2000 Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 23(Suppl 1):S4-S19
16. 2001 Executive summary of the third report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA 285:2486-2497
17. Heathcote K, Rajab A, Magre J, Syrris P, Besti M, Patton M, Delepine M, Lathrop M, Capeau J, Jeffery S 2002 Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci. Diabetes 51:1291-1293
18. Simha V, Garg A, Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy due to mutations in the AGPAT2 or Seipin genes. J Clin Endocrinol Metab, in press
19. Leung DW 2001 The structure and functions of human lysophosphatidic acid acyltransferases. Front Biosci 6:D944-D953
20. Agarwal AK, Garg A 2003 Congenital generalized lipodystrophy: significance of triglyceride biosynthetic pathways. Trends Endocrinol Metab 14:214-221
21. Agarwal AK, Barnes RI, Garg A, Genetic basis of congenital generalized lipodystrophy. Int J Obes, in press
22. Bell RM, Coleman RA 1980 Enzymes of glycerolipid synthesis in eukaryotes. Annu Rev Biochem 49:459-487
23. Cases S, Smith SJ, Zheng YW, Myers HM, Lear SR, Sande E, Novak S, Collins C, Welch CB, Lusis AJ, Erickson SK, Farese Jr RV 1998 Identification of a gene encoding an acyl CoA:diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis. Proc Natl Acad Sci USA 95:13018-13023