Barraquer-Simons syndrome: A rare clinical entity

American Journal of Medical Genetics, Part A

Volumn 164, Issue 7, 2014, Pages 1756-1760

  Simsek Kiper, Pelin Ozlem ^a   Roach, Emir ^a   Utine, Gulen Eda ^a   Boduroglu, Koray ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Barraquer Simons syndrome; LMNB2; Loss of subcutaneous fat tissue; Partial lipodystrophy

Indexed keywords

ADULT; AGPAT2 GENE; ARTICLE; BARRAQUER SIMONS SYNDROME; BSCL2 GENE; CASE REPORT; CAV1 GENE; CIDEC GENE; DNA SEQUENCE; FEMALE; GENE; GENE MUTATION; HUMAN; LIPODYSTROPHY; LMNA GENE; LMNB2 GENE; MICROSTOMIA; MUTATIONAL ANALYSIS; ONSET AGE; PHYSICAL EXAMINATION; PLIN1 GENE; PPARG GENE; PRIORITY JOURNAL; PTRF GENE; RARE DISEASE; SUBCUTANEOUS FAT; ABNORMALITIES, MULTIPLE; BLOOD; KIDNEY FUNCTION TEST; MEAN CORPUSCULAR VOLUME; PHENOTYPE; THYROID FUNCTION TEST; YOUNG ADULT;

LIPID;

ABNORMALITIES, MULTIPLE; ERYTHROCYTE INDICES; FEMALE; HUMANS; KIDNEY FUNCTION TESTS; LIPIDS; LIPODYSTROPHY; PHENOTYPE; THYROID FUNCTION TESTS; YOUNG ADULT;

EID: 84902480024     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36491     Document Type: Article

References (31)

1. Barraquer L. 1907. Histoire clinique d'un cas d'atrophie du tissu celluloadipeux. Neurolog Zentralblatt 26:1072.
2. Chopra S, Isaac R, Mammen K, Pawar B. 2000. Renal transplantation in a patient with Barraquer-Simons disease and mesangiocapillary glomerulonephritis type II. Nephrol Dial Transplant 15:1723-1724.
3. Faguer S, De Sandre-Giovannoli A, Hemery M, Lévy N, Lamant L, Arveiler B, Rooryck C, Prouheze C, Vigouroux A, Chauveau D, Calvas P, Chassaing N. 2011. A 10Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis. Eur J Med Genet 54:310-313.
4. Frey BJ, Mohammad N, Morris QD, Zhang W, Robinson MD, Mnaimneh S, Chang R, Pan Q, Sat E, Rossant J, Bruneau BG, Aubin JE, Blencowe BJ, Hughes TR. 2005. Genome-wide analysis of mouse transcripts using exon microarrays and factor graphs. Nat Genet 37:991-996.
5. Gao J, Li Y, Fu X, Luo X. 2012. A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene. J Pediatr Endocrinol Metab 25:375-377.
6. Garg A. 2000. Lipodystrophies. Am J Med 108:143-152.
7. Garg A. 2004. Acquired and inherited lipodystrophies. N Engl J Med 350:1220-1234.
8. Garg A. 2011. Clinical review: Lipodystrophies: Genetic and acquired body fat disorders. J Clin Endocrinol Metab 96:3313-3325.
9. Garg A, Misra A. 2004. Lipodystrophies: Rare disorders causing metabolic syndrome. Endocrinol Metab Clin North Am 33:305-331.
10. Giralt M, Domingo P, Guallar JP, Rodriguez de la Concepcion ML, Alegre M, Domingo JC, Villarroya F. 2006. HIV-1 infection alters gene expression in adipose tissue, which contributes to HIV-1/HAART-associated lipodystrophy. Antivir Ther 11:729.
11. Guallar JP, Rojas-Garcia R, Garcia-Arumi E, Domingo JC, Gallardo E, Andreu AL, Domingo P, Illa I, Giralt M, Villarroya F. 2008. Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): A case report. J Med Case Rep 27; 2: 284.
12. Hegele RA, Yuen J, Cao H. 2001. Single-nucleotide polymorphisms of the nuclear lamina proteome. J Hum Genet 46:351-354.
13. Hegele RA. 2004. Phenomics, lipodystrophy, and the metabolic syndrome. Trends Cardiovasc Med 14:133-137.
14. Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN. 2006. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet 79:383-389.
15. Jasin HE. 1979. Systemic lupus erythematosus, partial lipodystrophy, and hypocomplementemia. J Rheumatol 6:43-50.
16. Laxenaire M, Weber M, Tridon P. 1969. Familial epilepsy and progressive partial lipodystrophy (Barraquer-Simons disease). Epilepsia 10:87-90.
17. Mathieson PW, Wurzner R, Oliveria DB, Lachmann PJ, Peters DK. 1993. Complement-mediated adipocyte lysis by nephritic factor sera. J Exp Med 177:1827-1831.
18. Mathieson PW, Peters K. 1994. Are nephritic factors nephritogenic? Am J Kidney Dis 24:964-966.
19. Mathieson PW, Peters DK. 1997. Lipodystrophy in MCGN type II: The clue to links between the adipocyte and the complement system. Nephrol Dial Transplant 12:1804-1806.
20. Misra A, Peethambaram A, Garg A. 2004. Clinical features and metabolic and autoimmune derangements in acquired partial lipodystrophy: Report of 35 cases and review of the literature. Medicine 83:18-34.
21. 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.
22. Mitchell SW. 1885. Singular case of absence of adipose matter in the upper half of the body. Am J Med Sci 90:105-106.
23. Pope E, Janson A, Khambalia A, Feldman B. 2006. Childhood acquired lipodystrophy: A retrospective study. J Am Acad Dermatol 55:947-950.
24. Seip M, Trygstad O. 1996. Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr 413:2-28.
25. Simons A. 1911. Eine seltnen Trophoneurose: "Lipodystrophia progressiva." Z Ges Neurol Psychiat 5:29-38.
26. Spranger S, Spranger M, Tasman AJ, Reith W, Voigtländer T. Voigtländer V. 1997. Barraquer-Simons syndrome (with sensorineural deafness): A contribution to the differential diagnosis of lipodystrophy syndromes. Am J Med Genet 5; 71: 397-400.
27. Torrelo A, Espana A, Boixeda P, Ledo A. 1991. Partial lipodystrophy and dermatomyositis. Arch Dermatol 127:1846-1847.
28. Villarroya F, Domingo P, Giralt M. 2005. Lipodystrophy associated with highly active anti-retroviral therapy for HIV infection: The adipocyte as a target of anti-retroviral-induced mitochondrial toxicity. Trends Pharmacol Sci 26:88.
29. West CD, McAdams AJ. 1999. The alternative pathway C3 convertase and glomerular deposits. Pediatr Nephrol 13:448-453.
30. White RT, Damm D, Hancock N, Rosen BS, Lowell BB, Usher P, Flier JS, Spiegelman BM. 1992. Human adipsin is identical to complement factor D and is expressed at high levels in adipose tissue. J Biol Chem 267:9210-9213.
31. Williams DG, Bartlett A, Duffus P. 1978. Identification of nephritic factor as an immunoglobulin. Clin Exp Immunol 33:425-429.