Different mutations in the LMNA gene cause autosomal dominant autosomal recessive Emery-Dreifuss muscular dystrophy

American Journal of Human Genetics

Volumn 66, Issue 4, 2000, Pages 1407-1412

  Di Barletta, Marina Raffaele ^a   Ricci, Enzo ^b,c   Galluzzi, Giuliana ^d   Tonali, Pietro ^b   Mora, Marina ^e   Morandi, Lucia ^e   Romorini, Alessandro ^f   Voit, Thomas ^g   Orstavik, Karen Helene ^h   Merlini, Luciano ⁱ   Trevisan, Carlo ^j   Biancalana, Valerie ^m   Housmanowa Petrusewicz, Irena ^k   Bione, Silvia ^a   Ricotti, Roberta ^a   Schwartz, Ketty ^l   Bonne, Giselle ^l   Toniolo, Daniela ^a,d  

^a Inst of Biochem and Evol G   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c Center for Neuromuscular Diseases   (Italy)

^d CNR   (Italy)

^e DEPARTMENT OF NEUROSURGERY   (Italy)

^f Legnano Hospital   (Italy)

^g UNIVERSITY OF DUISBURG ESSEN   (Germany)

^h ULLEVÅL UNIVERSITY HOSPITAL   (Norway)

ⁱ RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^j UNIVERSITY OF PADOVA   (Italy)

^k MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^l PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^m UNIVERSITÉ DE STRASBOURG   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE ISOLATION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; PATHOPHYSIOLOGY; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SYNDROME DELINEATION;

EID: 0033927867     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302869     Document Type: Article

References (33)

1. Bione S, Maestrini M, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identification of a novel X-linked gene responsible for Emery Dreifuss muscular dystrophy. Nat Genet 8:323-327
2. Bione S, Small K, Aksmanovic VMA, D'Urso M, Ciccodicola A, Merlini L, Morandi L, et al (1995) Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 4:1859-1863
3. Bonne G, Raffaele di Barletta M, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, et al (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21:285-288
4. Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 101:473-476
5. Cao H, Hegele RA (2000) Nuclear lamin A/C R482 mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9:109-112
6. Cartegni L, Raffaele di Barletta M, Barresi R, Squarzoni S, Sabatelli P, Maraldi N, Mora M, et al (1997) Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy. Hum Mol Genet 6:2257-2264
7. Emery AEH (1989) Emery-Dreifuss syndrome. J Med Genet 26:637-641
8. Emery AEH, Dreifuss FE (1966) Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 29:338-342
9. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, et al (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
10. Fenichel GM, Sul YC, Kilroy AW, Blouin R (1982) An autosomal-dominant dystrophy with humeroperopelvic distribution and cardiomyopathy. Neurology 32:1399-1401
11. Foisner R, Gerace L (1993) Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 73:1267-1279
12. Furukawa K, Glass C, Kondo T (1997) Characterization of the chromatin binding activity of lamina-associated polypeptide (LAP) 2. Biochem Biophys Res Commun 238: 240-246
13. Glass CA, Glass JR, Taniura H, Hasel KW, Blevitt JM, Gerace L (1993) The α-helical rod domain of human lamins A and C contains a chromatin binding site. EMBO J 12:4413-4424
14. Hoger TH, Krohne G, Kleinschmidt JA (1991) Interaction of Xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxyterminal domain. Exp Cell Res 197:280-289
15. 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
16. Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, Deburgrave N, et al (1998) Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 7:855-864
17. Martin L, Crimaudo C, Gerace L (1995) cDNA cloning and characterization of lamina-associated polypeptide 1C (LAP1C), an integral protein of the inner nuclear membrane. J Biol Chem 270:8822-8828
18. Miller RG, Layzer RB, Mellenthin MA, Golabi M, Francoz RA, Mall JC (1985) Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 35: 1230-1233
19. Morris GE, Manilal S (1999) Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy. Hum Mol Genet 8:1847-1851
20. Nagano A, Koga R, Ogawa M, Kurano Y, Kawada J, Okada R, Hayashi YK, er al (1996) Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 12:254-259
21. Oefner PJ, Underhill PA (1995) Comparative DNA sequence by denaturing high performance liquid chromatography (DHPLC). Am J Hum Genet Suppl 57:266
22. Oefner PJ, Underhill PA (1998) Comparative DNA mutation detection using denaturing high performance liquid chromatography (DHPLC). In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, et al (eds) Current protocols in human genetics, Wiley, New York, pp 7.10.1-7.10.12
23. Orstavik KH, Kloster R, Lippestad C, Rode L, Hovig T, Fuglseth KN (1990) Emery-Dreifuss syndrome in three generations of females, including identical twins. Clin Genet 38: 447-451
24. Stuurman N, Heins S, Aebi U (1998) Nuclear lamins: their structure, assembly and interactions. J Struct Biol 122:42-66
25. Sullivan T, Escalante-Alcade D, Batt H, Anver M, Bhat N, Nagashima K, Stewart CL, et al (1999) Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol 147:913-920
26. Takamoto K, Hirose K, Uono M, Nokana I (1984) A genetic variant of Emery-Dreifuss disease. Arch Neurol 41: 1292-1293
27. Taniura H, Glass C, Gerace L (1995) A chromatin binding site in the tail domain of nuclear lamins that interacts with core histone. J Cell Biol 131:33-44
28. Taylor J, Sewry CA, Dubowitz V, Muntoni F (1998) Early onset autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression. Neurology 51:1116-1120
29. Toniolo D, Bione S, Arahata K (1998) Emery-Dreifuss muscular dystrophy. In: Emery AEH (ed) Neuromuscular disorders: clinical and molecular genetics. Wiley, London, pp 87-103
30. Toniolo D, Minetti C (1999) Muscular dystrophies: alterations in a limited number of cellular pathways? Curr Opin Genet Dev 9:275-282
31. Voit T, Krogman O, Lenard HG, Neuen-Jacob E, Wechsler W, Goebel HH, Rahlf G, et al (1988) EMD: disease spectrum and differential diagnosis. Neuropediatrics 19:62-71
32. Worman HJ, Yuan J, Blobel G, Georgatos SD (1988) A lamin B receptor in the nuclear envelope. Proc Natl Acad Sci USA 85:8531-8534
33. Yates JR (1997) 43rd ENMC International Workshop on Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 7: 67-69