LMNA

LMNA est un gène situé sur le chromosome 1 humain. Il permet la synthèse des lamines A et C par épissage alternatif.

En médecine

Les mutations de ce gènes sont impliquées dans plusieurs maladies, appelées laminopathies :

cardiomyopathie dilatée^[1] se caractérisant par des troubles conductif, des arythmies ventriculaires, une survenue chez l'adulte jeune^[2], un recours plus fréquent à une transplantation cardiaque^[3] ;
dystrophie musculaire d'Emery-Dreifuss^[4] ;
lipodystrophie familiale partielle^[5] ;
dystrophie musculaire des ceintures^[6] ;
progéria^[7].

Certaines maladies sont proches et la distinction entre ces syndromes n'est pas toujours nette, avec des manifestations pouvant recouvrir plusieurs de ces atteintes^[8].

Notes et références

↑ 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, N Engl J Med, 1999;341:1715–1724
↑ Hasselberg NE, Haland TF, Saberniak J et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantations, Eur Heart J, 2018;39:853–860
↑ Kayvanpour E, Sedaghat-Hamedani F, Amr A et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals, Clin Res Cardiol, 2017;106:127–139
↑ Bonne G, Di Barletta MR, 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.
↑ Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet, 2000;24:153–156
↑ Genschel J, Schmidt HH, Mutations in the LMNA gene encoding lamin A/C, Hum Mutat, 2000;16:451–459
↑ Broers JL, Ramaekers FC, Bonne G, Yaou RB, Hutchison CJ, Nuclear lamins: laminopathies and their role in premature ageing, Physiol Rev, 2006;86:967–1008
↑ Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A, A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, 2016;209:317–318

[Fatkin_1999-1] 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, N Engl J Med, 1999;341:1715–1724

[Hasselberg_2018-2] Hasselberg NE, Haland TF, Saberniak J et al. Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantations, Eur Heart J, 2018;39:853–860

[Kayvanpour_2017-3] Kayvanpour E, Sedaghat-Hamedani F, Amr A et al. Genotype-phenotype associations in dilated cardiomyopathy: meta-analysis on more than 8000 individuals, Clin Res Cardiol, 2017;106:127–139

[Bonne_1999-4] Bonne G, Di Barletta MR, 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.

[Shackleton_2000-5] Shackleton S, Lloyd DJ, Jackson SN et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy, Nat Genet, 2000;24:153–156

[Genschel_2000-6] Genschel J, Schmidt HH, Mutations in the LMNA gene encoding lamin A/C, Hum Mutat, 2000;16:451–459

[Broers_2006-7] Broers JL, Ramaekers FC, Bonne G, Yaou RB, Hutchison CJ, Nuclear lamins: laminopathies and their role in premature ageing, Physiol Rev, 2006;86:967–1008

[Ambrosi_2016-8] Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A, A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene, Int J Cardiol, 2016;209:317–318

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