Atypical Generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 52, Issue 8, 2008, Pages 1252-1256

  Mory, Patricia B ^a   Crispim, Felipe ^a   Kasamatsu, Teresa ^a   Gabbay, Monica A L ^a   Dib, Sergio A ^a   Moisés, Regina S ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Insulin resistance; Lamin A C; Lipodystrophy; LMNA gene

Indexed keywords

EID: 58849099548     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302008000800008     Document Type: Article

References (23)

1. Garg A. Acquired and Inherited Lipodystrophies. New Engl J Med. 2004;350(18): 1220-34.
2. Agarwal AK, Garg A. Genetic basis of lipodystrophies and management of metabolic complications. Annu Rev Med. 2006;57:297-311.
3. Agarwal AK, Arioglu E, de Almeida S, Akkoc N, Taylor SI, Bowcock AM, et al. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. Nat Genet. 2002;31(1):21-3.
4. Magre J, Delépine M, Khallouf E, Gedde-Dahl Jr T, Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet. 2001; 28(4):365-70.
5. Peters JM, Barnes R, Bennett L, Gitomer WM, Bowcock AM, Garg A. Localization for the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22. Nat Genet. 1998;18(3):292-5.
6. Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000;9(1):109-12.
7. Lin F, Worman HJ. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem. 1993;268(22):16321-6.
8. Di Barletta MR, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000;66(4):1407-12.
9. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999;341(23):1715- 24.
10. Cao H, Hegele RA. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet. 2003;48(5):271-4.
11. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet. 2002;70(3):726-36.
12. Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, et al. LMNA mutations in atypical Werner's syndrome. Lancet. 2003;362(9382):440-5.
13. Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, et al. A New Clinical Condition Linked to a Novel Mutation in Lamins A and C with Generalized Lipoatrophy, Insulin-Resistant Diabetes, Disseminated Leukomelanodermic Papules, Liver Steatosis, and Cardiomyopathy J Clin Endocrinol Metab. 2003;88(3):1006-13.
14. Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA. Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet. 2004;41(4):304-8.
15. Mazess RB, Barden HS, Bisek JP, Hanson J. Dual-energy x-ray absorptiometry for total-body and regional bone-mineral and soft-tissue composition. Am J Clin Nutr. 1990;51(6):1106-12.
16. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet. 2000;24(2):153-6.
17. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, et al. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet. 2000;66(4):1192-8.
18. Cutler DL, Kaufmann S, Freidenberg GR. Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. J Clin Endocrinol Metab. 1991;73(5):1056-61.
19. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002;71(2):426-31.
20. Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab. 2005;90(9):5259-64.
21. Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab. 2003;88(6):2821-4.
22. Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Narbonne YRH, et al. New Metabolic Phenotypes in Laminopathies: LMNA Mutations in Patients with Severe Metabolic Syndrome. J Clin Endocrinol Metab. 2007;92(12):4835-44
23. Jacob KN, Baptista F, Santos HG, Oshima J, Agarwal AK, Garg A. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's Syndrome due to heterozygous Arg133Leu laminin A/C mutation. J Clin Endocrinol Metab. 2005;90(12):6699-06.