Lamin A/C
The LMNA gene encodes a nuclear matrix protein. Mutations in this gene lead to several diseases: autosomal recessive Emery-Dreifuss muscular dystrophy, autosomal dominant familial partial lipodystrophy type 2, autosomal dominant limb girdle muscular dystrophy type 1B, autosomal dominant dilated cardiomyopathy type 1A, autosomal recessive Charcot-Marie-Tooth disease type 2B1, autosomal dominant Hutchinson-Gilford progeria syndrome, and autosomal dominant Slovenian type heart-hand syndrome.
Genetests:
Related Diseases:
References:
1. |
Fatkin D et al. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
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2. |
Brodsky GL et al. (2000) Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement.
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3. |
Taylor MR et al. (2003) Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
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4. |
Charniot JC et al. (2003) Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.
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5. |
Sébillon P et al. (2003) Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.
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6. |
Mounkes LC et al. (2005) Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.
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7. |
Meune C et al. (2006) Primary prevention of sudden death in patients with lamin A/C gene mutations.
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8. |
Lloyd DJ et al. (2002) A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.
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9. |
Cao H et al. (2000) Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.
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10. |
Shackleton S et al. (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.
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11. |
Speckman RA et al. (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.
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12. |
Garg A et al. (2001) Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.
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13. |
Schmidt HH et al. (2001) Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.
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14. |
Vigouroux C et al. (2001) Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.
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15. |
Caux F et al. (2003) 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.
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16. |
Vigouroux C et al. (2003) LMNA mutations in atypical Werner's syndrome.
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17. |
Lanktree M et al. (2007) Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660).
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18. |
None (2003) Drawing the line in progeria syndromes.
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19. |
Chen L et al. (2003) LMNA mutations in atypical Werner's syndrome.
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20. |
Nguyen D et al. (2007) Collagen expression in fibroblasts with a novel LMNA mutation.
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21. |
McPherson E et al. (2009) Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.
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22. |
Bonne G et al. (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
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23. |
None (2000) Pushing the envelope on lipodystrophy.
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24. |
Raffaele Di Barletta M et al. (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
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25. |
Muchir A et al. (2000) Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B).
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26. |
Hegele RA et al. (2000) LMNA R482Q mutation in partial lipodystrophy associated with reduced plasma leptin concentration.
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27. |
Hegele RA et al. (2000) Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians.
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28. |
Genschel J et al. (2000) Mutations in the LMNA gene encoding lamin A/C.
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29. |
Hegele RA et al. (2001) Common genomic variation in LMNA modulates indexes of obesity in Inuit.
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30. |
Brown CA et al. (2001) Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
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31. |
De Sandre-Giovannoli A et al. (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.
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32. |
Novelli G et al. (2002) Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.
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33. |
van der Kooi AJ et al. (2002) Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
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34. |
De Sandre-Giovannoli A et al. (2003) Lamin a truncation in Hutchinson-Gilford progeria.
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35. |
Eriksson M et al. (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.
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36. |
Mounkes LC et al. (2003) A progeroid syndrome in mice is caused by defects in A-type lamins.
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37. |
Cao H et al. (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).
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38. |
Cogulu O et al. (2003) Mandibuloacral dysplasia with absent breast development.
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39. |
Simha V et al. (2003) Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.
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40. |
Shen JJ et al. (2003) Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C.
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41. |
Favreau C et al. (2004) Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts.
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42. |
Lammerding J et al. (2004) Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.
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43. |
D'Apice MR et al. (2004) Paternal origin of LMNA mutations in Hutchinson-Gilford progeria.
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44. |
Csoka AB et al. (2004) Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes.
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45. |
Mercuri E et al. (2004) 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.
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46. |
Goldman RD et al. (2004) Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome.
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47. |
Plasilova M et al. (2004) Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome.
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48. |
Navarro CL et al. (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.
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49. |
Reddel CJ et al. (2004) Lamin A expression levels are unperturbed at the normal and mutant alleles but display partial splice site selection in Hutchinson-Gilford progeria syndrome.
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50. |
Broers JL et al. (2004) Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.
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51. |
Vantyghem MC et al. (2004) Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.
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52. |
Arimura T et al. (2005) Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies.
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53. |
Kirschner J et al. (2005) p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
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54. |
van Engelen BG et al. (2005) The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene.
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55. |
Scaffidi P et al. (2005) Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome.
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56. |
Mercuri E et al. (2005) Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene.
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57. |
Wuyts W et al. (2005) Somatic and gonadal mosaicism in Hutchinson-Gilford progeria.
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58. |
Navarro CL et al. (2005) Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.
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59. |
Capanni C et al. (2005) Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.
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60. |
None (2005) LMNA mutation position predicts organ system involvement in laminopathies.
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61. |
D'Amico A et al. (2005) Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes.
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62. |
Sinkovec M et al. (2005) Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
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63. |
Garg A et al. (2005) A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.
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64. |
Yang SH et al. (2005) Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation.
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65. |
Van Berlo JH et al. (2005) A-type lamins are essential for TGF-beta1 induced PP2A to dephosphorylate transcription factors.
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66. |
Glynn MW et al. (2005) Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.
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67. |
Capell BC et al. (2005) Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome.
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68. |
Toth JI et al. (2005) Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes.
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69. |
Jacob KN et al. (2005) Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.
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70. |
Mallampalli MP et al. (2005) Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome.
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71. |
Huang S et al. (2005) Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference.
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72. |
Van Esch H et al. (2006) A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.
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73. |
Boguslavsky RL et al. (2006) Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy.
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74. |
Frock RL et al. (2006) Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.
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75. |
Varga R et al. (2006) Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome.
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76. |
Morel CF et al. (2006) A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.
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77. |
Scaffidi P et al. (2006) Lamin A-dependent nuclear defects in human aging.
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78. |
Shumaker DK et al. (2006) Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging.
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79. |
Yang SH et al. (2006) A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation.
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80. |
Rudnik-Schöneborn S et al. (2007) Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
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81. |
Capell BC et al. (2006) Human laminopathies: nuclei gone genetically awry.
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82. |
Benedetti S et al. (2007) Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
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83. |
Muchir A et al. (2007) Activation of MAPK pathways links LMNA mutations to cardiomyopathy in Emery-Dreifuss muscular dystrophy.
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84. |
Worman HJ et al. (2007) "Laminopathies": a wide spectrum of human diseases.
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85. |
Moulson CL et al. (2007) Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes.
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86. |
Ben Yaou R et al. (2007) Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
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87. |
Coffinier C et al. (2007) HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells.
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88. |
Decaudain A et al. (2007) New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.
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89. |
Lombardi F et al. (2007) Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.
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90. |
Kandert S et al. (2007) Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells.
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91. |
Kosho T et al. (2007) Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes.
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92. |
Scaffidi P et al. (2008) Lamin A-dependent misregulation of adult stem cells associated with accelerated ageing.
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93. |
Zirn B et al. (2008) Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.
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94. |
Rankin J et al. (2008) Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
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95. |
Quijano-Roy S et al. (2008) De novo LMNA mutations cause a new form of congenital muscular dystrophy.
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96. |
Renou L et al. (2008) Heart-hand syndrome of Slovenian type: a new kind of laminopathy.
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97. |
Yang SH et al. (2008) Progerin elicits disease phenotypes of progeria in mice whether or not it is farnesylated.
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98. |
Muchir A et al. (2009) Inhibition of extracellular signal-regulated kinase signaling to prevent cardiomyopathy caused by mutation in the gene encoding A-type lamins.
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99. |
Makri S et al. (2009) Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy.
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100. |
Rodriguez S et al. (2009) Increased expression of the Hutchinson-Gilford progeria syndrome truncated lamin A transcript during cell aging.
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101. |
Garavelli L et al. (2009) Mandibuloacral dysplasia type A in childhood.
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102. |
Møller DV et al. (2009) The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy.
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103. |
Haque F et al. (2010) Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
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104. |
Małek LA et al. (2011) A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation.
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105. |
Liu GH et al. (2011) Recapitulation of premature ageing with iPSCs from Hutchinson-Gilford progeria syndrome.
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106. |
Chen CY et al. (2012) Accumulation of the inner nuclear envelope protein Sun1 is pathogenic in progeric and dystrophic laminopathies.
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107. |
Krohne G et al. (1986) The nuclear lamins. A multigene family of proteins in evolution and differentiation.
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108. |
Weber K et al. (1989) Maturation of nuclear lamin A involves a specific carboxy-terminal trimming, which removes the polyisoprenylation site from the precursor; implications for the structure of the nuclear lamina.
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109. |
Lebel S et al. (1987) Lamin A is not synthesized as a larger precursor polypeptide.
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110. |
McKeon FD et al. () Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.
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111. |
Fisher DZ et al. (1986) cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins.
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112. |
Guilly MN et al. (1987) A human T lymphoblastic cell line lacks lamins A and C.
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113. |
Sinensky M et al. (1994) The processing pathway of prelamin A.
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114. |
Lin F et al. (1993) Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C.
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115. |
Wydner KL et al. (1996) Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
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116. |
NCBI article
NCBI 4000
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117. |
OMIM.ORG article
Omim 150330
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118. |
Orphanet article
Orphanet ID 123090
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119. |
Wikipedia article
Wikipedia EN (LMNA)
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Update: Aug. 14, 2020