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

Journal of Clinical Endocrinology and Metabolism

Volumn 88, Issue 3, 2003, Pages 1006-1013

  Caux, F ^a,c   Dubosclard, E ^d   Lascols, O ^d   Buendia, B ^b   Chazouilleres O ^d   Cohen, A ^d   Courvalin, J C ^b   Laroche, L ^a,c   Capeau, J ^e   Vigouroux, C ^d   Christin Maitre, Sophie ^d  

^a AVICENNE HOSPITAL   (France)

^b INSTITUT JACQUES MONOD   (France)

^c UNIVERSITÉ PARIS 13   (France)

^d HÔPITAL SAINT ANTOINE   (France)

^e NONE

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; CARDIOMYOPATHY; CASE REPORT; DIABETES MELLITUS; FATTY LIVER; GENE LOCATION; GENETIC LINKAGE; GENETIC VARIABILITY; HUMAN; IMMUNOFLUORESCENCE; INSULIN RESISTANCE; INTERMEDIATE FILAMENT; LIPOATROPHY; MALE; MOLECULAR GENETICS; PAPULE; PRIORITY JOURNAL;

ADULT; AMINO ACID SEQUENCE; ANIMALS; CARDIOMYOPATHY, HYPERTROPHIC; CONSERVED SEQUENCE; DIABETES MELLITUS; FATTY LIVER; HUMANS; INSULIN RESISTANCE; LAMIN TYPE A; LIPODYSTROPHY; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SKIN DISEASES;

EID: 0037342243     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2002-021506     Document Type: Article

References (30)

1. Lin F, Worman HJ 1993 Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268:16321-16326
2. Worman HJ, Courvalin JC 2000 The inner nuclear membrane. J Membr Biol 177:1-11
3. Stuurman N, Heins S, Aebi U 1998 Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 122:42-66
4. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K 1999 Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288
5. Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D 2000 Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66:1407-1412
6. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9:1453-1459
7. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet Jr HJ, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B 1999 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 341:1715-1724
8. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N 2002 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 70:726-736
9. Cao H, Hegele RA 2000 Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109-112
10. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC 2000 LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24:153-156
11. Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM 2000 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. Hum Genet 66:1192-1198
12. Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J 2000 Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes 49:1958-1962
13. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G 2002 Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71:426-431
14. Sambrook J, Fritsch EF, Maniatis T 1989 Molecular cloning: a laboratory manual, 2nd Ed. Cold Spring Harbor: Cold Spring Harbor Laboratory Press; 9.17-9.19
15. Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B 2001 Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene. J Cell Sci 114:4459-4468
16. Chaudhary N, Courvalin, JC 1993 Stepwise reassembly of the nuclear envelope at the end of mitosis. J Cell Biol 122:295-306
17. Burke B, Stewart CL 2002 Life at the edge: the nuclear envelope and human disease. Nat Rev Mol Cell Biol 3:575-585
18. Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE 2001 Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 102:359-367
19. Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferret X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F 2000 Clinical and molecular genetic spectrum of autosomal dominant Emery Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48:170-180
20. Favreau C, Dubosclard E, Östlund C, Vigouroux C, Capeau J, Wehnert M, Higuet D, Worman HJ, Courvalin J-C, Buendia B 2003 Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy. Exp Cell Res 282:14-23
21. Sullivan T, Escalante-Alcalde D, Bhatt H, Anver M, Bath N, Nagashima K, Stewart CL, Burke B 1999 Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147:913-920
22. Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F 2001 Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27:281-290
23. Lloyd DJ, Trembath RC, Shackleton S 2002 A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies. Hum Mol Genet 11:769-777
24. Reitman ML, Arioglu E, Gavrilova O, Taylor SI 2000 Lipoatrophy revisited. Trends Endocrinol Metab 11:410-416
25. Bjornstad PG, Foerster A, Ihlen H 1996 Cardiac findings in generalized lipodystrophy. Acta Paediatr 413(Suppl):39-43
26. Bhayana S, Siu VM, Joubert GI, Clarson CL, Cao H, Hegele RA 2002 Cardiomyopathy in congenital complete lipodystrophy. Clin Genet 61:283-287
27. Garg A, Speckman RA, Bowcock AM 2002 Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and α-helical rod domains of the lamin A/C gene. Am J Med 112:549-555
28. Van Der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van Der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, De Visser M 2002 Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 59:620-623
29. Simha V, Garg A 2002 Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. J Clin Endocrinol Metab 87:776-785
30. Fryburg JS, Sidhu-Malik N 1995 Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. J Am Acad Dermatol 33:900-902