Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family

Neurologia i Neurochirurgia Polska

Volumn 44, Issue 3, 2010, Pages 291-296

  Drac, Hanna ^a,b   Madej Pilarczyk, Agnieszka ^b   Gospodarczyk Szot, Krystyna ^a   Gaweł, Małgorzata ^a   Kwieciński, Hubert ^a   Hausmanowa Petrusewicz, Irena ^b  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

Author keywords

Familial partial lipodystrophy (FPLD); Lamin A C; Laminopathies; LMNA

Indexed keywords

METFORMIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; CHILD; CUSHINGOID SYNDROME; DIABETES MELLITUS; FAMILIAL PARTIAL LIPODYSTROPHY; FATTY LIVER; FEMALE; GENE; GENE MUTATION; HUMAN; IMPAIRED GLUCOSE TOLERANCE; INSULIN RESISTANCE; LMNA GENE; MYALGIA; PEDIGREE; PHENOTYPE; SCHOOL CHILD; SUBCUTANEOUS FAT;

EID: 77954696727     PISSN: 00283843     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0028-3843(14)60044-x     Document Type: Article

References (20)

1. Garg A., Peshock R.M., Fleckenstein J.L. Adipose tissue distribution pattern in patients with familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 1999; 84: 170-174. (Pubitemid 29036696)
2. Cao H., Hegele R.A. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000; 9: 109-112. (Pubitemid 30145295)
3. Garg A. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety). J Clin Endocrinol Metab 2000; 85: 1776-1782. (Pubitemid 32269275)
4. Hegele R.A. Premature atherosclerosis associated with monogenic insulin resistance. Circulation 2001; 103: 2225-2229. (Pubitemid 32433709)
5. Haque W.A., Oral E.A., Dietz K., et al. Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety. Diabetes Care 2003; 26: 1350-1355.
6. Worman H.J., Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res 2007; 313: 2121-2133.
7. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery- Dreifuss muscular dystrophy. Nat Genet 1999; 21: 285-288.
8. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng J Med 1999; 341: 1715-1724.
9. De Sandre-Giovannoli A., Chaouch M., Kozlov S., 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: 726-736.
10. Novelli G., Muchir A., Sangiuolo F., et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002; 71: 426-431.
11. De Sandre-Giovannoli A., Bernard R., Cau P., et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003; 300: 2055.
12. Eriksson M., Brown W.T., Gordon L.B., et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 2003; 423: 293-298.
13. Navarro C.L., De Sandre-Giovannoli A., Bernard R., et al. Lamin A and ZMPSTE24 (FACE-1) defect cause nuclear disorganization and identify restrictive dermatopathy as a lethal neonatal laminopathy. Hum Mol Gen 2004; 13: 2493-2503.
14. Garg A. Acquired and inherited lipodystrophies. NEJM 2004; 350: 1220-1234.
15. Lüdtke A., Genschel J., Brabant G., et al. Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. Am J Gastroenterol 2005; 100: 2218-2224.
16. Spuler S., Kalbhenn T., Zabojszcza J., et al. Muscle and nerve pathology in Dunnigan familial partial lipodystrophy. Neurology 2007; 68: 677-683.
17. Vantyghem M.C., Pigny P., Maurage C.A., et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004; 89: 5337-5346.
18. Simha V., Garg A. Lipodystrophy: lessons in lipid and energy metabolism. Curr Opin Lipidol 2006; 17: 162-169.
19. Speckman R.A., Garg A., Du F., 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: 1192-1198. (Pubitemid 30468776)
20. Shackleton S., Lloyd D.J., Jackson S.N., et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000; 24: 153-156.