Human Molecular Genetics, 2000, Vol. 9, No. 9 1453-1459
© 2000 Oxford University Press
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
INSERM UR523, Institut de Myologie, GH Pitié-Salpétrière, 75013 Paris, France, and 1Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
LGMD1B is an autosomal dominantly inherited, slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. The disease has been linked to chromosome 1q11–q21. Within this locus another muscular dystrophy, the autosomal dominant form of Emery–Dreifuss muscular dystrophy (AD-EDMD) has recently been mapped and the corresponding gene identified. AD-ADMD is characterized by early contractures of elbows and Achilles tendons and a humero-peroneal distribution of weakness combined with a cardiomyopathy with conduction defects. The disease gene of AD-EDMD is LMNA which encodes lamins A/C, two proteins of the nuclear envelope. In order to identify whether or not LGMD1B and AD-EDMD are allelic disorders, we carried out a search for mutations in the LMNA gene in patients with LGMD1B. For this, PCR/SSCP/sequencing screening was carried out for the 12 exons of LMNA on DNA samples of individuals from three LGMD1B families that were linked to chromosome 1q11–q21. Mutations were identified in all three LGMD1B families: a missense mutation, a deletion of a codon and a splice donor site mutation, respectively. The three mutations were identified in all affected members of the corresponding families and were absent in 100 unrelated control subjects. The present identification of mutations in the LMNA gene in LGMD1B demonstrates that LGMD1B and AD-EDMD are allelic disorders. Further analysis of phenotype–genotype relationship will help to clarify the variability of the phenotype observed in these two muscular dystrophies.
+ To whom correspondence should be addressed at INSERM UR523–Institut de Myologie, Bâtiment Babinski, G.H. Pitié-Salpétrière, 47 boulevard de l’Hôpital, 75651 Paris cedex 13, France. Tel: +33 1 42 16 57 23; Fax: +33 1 42 16 57 00; Email: g.bonne@myologie.chups.jussieu.fr
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|
 S. Ura, Y. K. Hayashi, K. Goto, M. N. Astejada, T. Murakami, M. Nagato, S. Ohta, Y. Daimon, H. Takekawa, K. Hirata, et al. Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations Arch Neurol, July 1, 2007; 64(7): 1038 - 1041. [Abstract] [Full Text] [PDF]
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|
|
 |
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|
|
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|
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|
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|
|
|
|
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|
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|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 K. Manju, B. Muralikrishna, and V. K Parnaik Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci J. Cell Sci., July 1, 2006; 119(13): 2704 - 2714. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J.-C. Charniot, M. Desnos, K. Zerhouni, D. Bonnefont-Rousselot, J.-P. Albertini, J. Z. Salama, G. Bassez, M. Komajda, and J.-Y. Artigou Severe dilated cardiomyopathy and quadriceps myopathy due to lamin A/C gene mutation: A phenotypic study Eur J Heart Fail, May 1, 2006; 8(3): 249 - 256. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
 |
|
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|
|
|
|
|
|
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|
|
|
|
 |
|
 R. Ozawa, Y. K. Hayashi, M. Ogawa, R. Kurokawa, H. Matsumoto, S. Noguchi, I. Nonaka, and I. Nishino Emerin-Lacking Mice Show Minimal Motor and Cardiac Dysfunctions with Nuclear-Associated Vacuoles Am. J. Pathol., March 1, 2006; 168(3): 907 - 917. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
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|
|
|
|
|
|
J.H. Van Berlo, J.W. Voncken, N. Kubben, J.L.V. Broers, R. Duisters, R.E.W. van Leeuwen, H.J.G.M. Crijns, F.C.S. Ramaekers, C.J. Hutchison, and Y.M. Pinto A-type lamins are essential for TGF-{beta}1 induced PP2A to dephosphorylate transcription factors Hum. Mol. Genet., October 1, 2005; 14(19): 2839 - 2849. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Capanni, E. Mattioli, M. Columbaro, E. Lucarelli, V. K. Parnaik, G. Novelli, M. Wehnert, V. Cenni, N. M. Maraldi, S. Squarzoni, et al. Altered pre-lamin A processing is a common mechanism leading to lipodystrophy Hum. Mol. Genet., June 1, 2005; 14(11): 1489 - 1502. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V Cenni, P Sabatelli, E Mattioli, S Marmiroli, C Capanni, A Ognibene, S Squarzoni, N M Maraldi, G Bonne, M Columbaro, et al. Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy J. Med. Genet., March 1, 2005; 42(3): 214 - 220. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
F. Lin, J. M. Morrison, W. Wu, and H. J. Worman MAN1, an integral protein of the inner nuclear membrane, binds Smad2 and Smad3 and antagonizes transforming growth factor-{beta} signaling Hum. Mol. Genet., February 1, 2005; 14(3): 437 - 445. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Markiewicz, M. Ledran, and C. J. Hutchison Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro J. Cell Sci., January 15, 2005; 118(2): 409 - 420. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Arimura, A. Helbling-Leclerc, C. Massart, S. Varnous, F. Niel, E. Lacene, Y. Fromes, M. Toussaint, A.-M. Mura, D. I. Keller, et al. Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies Hum. Mol. Genet., January 1, 2005; 14(1): 155 - 169. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. C. Vantyghem, P. Pigny, C. A. Maurage, N. Rouaix-Emery, T. Stojkovic, J. M. Cuisset, A. Millaire, O. Lascols, P. Vermersch, J. L. Wemeau, 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., November 1, 2004; 89(11): 5337 - 5346. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. L.V. Broers, E. A.G. Peeters, H. J.H. Kuijpers, J. Endert, C. V.C. Bouten, C. W.J. Oomens, F. P.T. Baaijens, and F. C.S. Ramaekers Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies Hum. Mol. Genet., November 1, 2004; 13(21): 2567 - 2580. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Muchir and H. J. Worman The Nuclear Envelope and Human Disease Physiology, October 1, 2004; 19(5): 309 - 314. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. R. G. Taylor, M. L. Robinson, and L. Mestroni Analysis of Genetic Variations of Lamin A/C Gene (LMNA) by Denaturing High-Performance Liquid Chromatography J Biomol Screen, October 1, 2004; 9(7): 625 - 628. [Abstract] [PDF]
|
|
|
|
 |
|
 S. Karkkainen, T. Helio, R. Miettinen, P. Tuomainen, P. Peltola, J. Rummukainen, K. Ylitalo, M. Kaartinen, J. Kuusisto, L. Toivonen, et al. A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy Eur. Heart J., May 2, 2004; 25(10): 885 - 893. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Mercuri, M. Poppe, R. Quinlivan, S. Messina, M. Kinali, L. Demay, J. Bourke, P. Richard, C. Sewry, M. Pike, et al. Extreme Variability of Phenotype in Patients With an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset With Severe Phenotype to Milder Classic Emery-Dreifuss Variant Arch Neurol, May 1, 2004; 61(5): 690 - 694. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C Goizet, R Ben Yaou, L Demay, P Richard, S Bouillot, M Rouanet, E Hermosilla, G Le Masson, A Lagueny, G Bonne, et al. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia J. Med. Genet., March 1, 2004; 41(3): e29 - 29. [Full Text] [PDF]
|
|
|
|
|
|
J. Kirschner and C. G. Bonnemann The Congenital and Limb-Girdle Muscular Dystrophies: Sharpening the Focus, Blurring the Boundaries Arch Neurol, February 1, 2004; 61(2): 189 - 199. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Tazir, H. Azzedine, S. Assami, P. Sindou, S. Nouioua, R. Zemmouri, T. Hamadouche, M. Chaouch, J. Feingold, J. M. Vallat, et al. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C Brain, January 1, 2004; 127(1): 154 - 163. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J.-F. Forissier, G. Bonne, C. Bouchier, L. Duboscq-Bidot, P. Richard, C. Wisnewski, S. Briault, C. Moraine, O. Dubourg, K. Schwartz, et al. Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation Eur J Heart Fail, December 1, 2003; 5(6): 821 - 825. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M Vytopil, S Benedetti, E Ricci, G Galluzzi, A Dello Russo, L Merlini, G Boriani, M Gallina, L Morandi, L Politano, et al. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes J. Med. Genet., December 1, 2003; 40(12): e132 - 132. [Full Text]
|
|
|
|
|
|
J J Shen, C A Brown, J R Lupski, and L Potocki Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C J. Med. Genet., November 1, 2003; 40(11): 854 - 857. [Full Text] [PDF]
|
|
|
|
|
|
A Todorova, B Halliger-Keller, M C Walter, M-C Dabauvalle, H Lochmuller, and C R Muller A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B J. Med. Genet., October 1, 2003; 40(10): e115 - 115. [Full Text] [PDF]
|
|
|
|
|
|
I. Holt, C. Ostlund, C. L. Stewart, N. t. Man, H. J. Worman, and G. E. Morris Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo J. Cell Sci., July 15, 2003; 116(14): 3027 - 3035. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. R. G. Taylor, P. R. Fain, G. Sinagra, M. L. Robinson, A. D. Robertson, E. Carniel, A. Di Lenarda, T. J. Bohlmeyer, D. A. Ferguson, G. L. Brodsky, et al. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations J. Am. Coll. Cardiol., March 5, 2003; 41(5): 771 - 780. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. A. Doevendans Genetic Polymorphisms and Cardiac Failure Seminars in Cardiothoracic and Vascular Anesthesia, March 1, 2003; 7(1): 23 - 29. [PDF]
|
|
|
|
|
|
F. Caux, E. Dubosclard, O. Lascols, B. Buendia, O. Chazouilleres, A. Cohen, J.-C. Courvalin, L. Laroche, J. Capeau, C. Vigouroux, 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., March 1, 2003; 88(3): 1006 - 1013. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
D. Fatkin and R. M. Graham Molecular Mechanisms of Inherited Cardiomyopathies Physiol Rev, October 1, 2002; 82(4): 945 - 980. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. J. van der Kooi, G. Bonne, B. Eymard, D. Duboc, B. Talim, M. Van der Valk, P. Reiss, P. Richard, L. Demay, L. Merlini, et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy Neurology, August 27, 2002; 59(4): 620 - 623. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Dhe-Paganon, E. D. Werner, Y.-I. Chi, and S. E. Shoelson Structure of the Globular Tail of Nuclear Lamin J. Biol. Chem., May 10, 2002; 277(20): 17381 - 17384. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Arbustini, A. Pilotto, A. Repetto, M. Grasso, A. Negri, M. Diegoli, C. Campana, L. Scelsi, E. Baldini, A. Gavazzi, et al. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease J. Am. Coll. Cardiol., March 20, 2002; 39(6): 981 - 990. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Ostlund, G. Bonne, K. Schwartz, and H. J. Worman Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy J. Cell Sci., March 14, 2002; 114(24): 4435 - 4445. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. H. Raharjo, P. Enarson, T. Sullivan, C. L. Stewart, and B. Burke Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy J. Cell Sci., March 14, 2002; 114(24): 4447 - 4457. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Vigouroux, M. Auclair, E. Dubosclard, M. Pouchelet, J. Capeau, J.-C. Courvalin, and B. Buendia Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene J. Cell Sci., March 14, 2002; 114(24): 4459 - 4468. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Q. Zhang, J. N. Skepper, F. Yang, J. D. Davies, L. Hegyi, R. G. Roberts, P. L. Weissberg, J. A. Ellis, and C. M. Shanahan Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues J. Cell Sci., March 14, 2002; 114(24): 4485 - 4498. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Bh. Muralikrishna, J. Dhawan, N. Rangaraj, and V. K. Parnaik Distinct changes in intranuclear lamin A/C organization during myoblast differentiation J. Cell Sci., March 13, 2002; 114(22): 4001 - 4011. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. D. Goldman, Y. Gruenbaum, R. D. Moir, D. K. Shumaker, and T. P. Spann Nuclear lamins: building blocks of nuclear architecture Genes & Dev., March 1, 2002; 16(5): 533 - 547. [Full Text] [PDF]
|
|
|
|
|
|
P. C. Scacheri, E. M. Gillanders, S. H. Subramony, V. Vedanarayanan, C. A. Crowe, N. Thakore, M. Bingler, and E. P. Hoffman Novel mutations in collagen VI genes: Expansion of the Bethlem myopathy phenotype Neurology, February 26, 2002; 58(4): 593 - 602. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. J. Lelliott, L. Logie, C. P. Sewter, D. Berger, P. Jani, F. Blows, S. O'Rahilly, and A. Vidal-Puig Lamin Expression in Human Adipose Cells in Relation to Anatomical Site and Differentiation State J. Clin. Endocrinol. Metab., February 1, 2002; 87(2): 728 - 734. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. Wu, F. Lin, and H. J. Worman Intracellular trafficking of MAN1, an integral protein of the nuclear envelope inner membrane J. Cell Sci., January 4, 2002; 115(7): 1361 - 1371. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. S. Bennett, F. Catella-Lawson, A. R. Rut, G. Vilaire, W. Qi, S. C. Kapoor, S. Murphy, and G. A. FitzGerald Effect of the PlA2 alloantigen on the function of {beta}3-integrins in platelets Blood, May 15, 2001; 97(10): 3093 - 3099. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P. M. Spooner, C. Albert, E. J. Benjamin, R. Boineau, R. C. Elston, A. L. George Jr, X. Jouven, L. H. Kuller, J. W. MacCluer, E. Marban, et al. Sudden Cardiac Death, Genes, and Arrhythmogenesis : Consideration of New Population and Mechanistic Approaches From a National Heart, Lung, and Blood Institute Workshop, Part I Circulation, May 15, 2001; 103(19): 2361 - 2364. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. H.-J. Schmidt, J. Genschel, P. Baier, M. Schmidt, J. Ockenga, U. J. F. Tietge, M. Pröpsting, C. Büttner, M. P. Manns, H. Lochs, et al. Dyslipemia in Familial Partial Lipodystrophy Caused by an R482W Mutation in the LMNA Gene J. Clin. Endocrinol. Metab., May 1, 2001; 86(5): 2289 - 2295. [Abstract] [Full Text]
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