A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant Emery-Dreifuss muscular dystrophy

Muscle and Nerve

Volumn 38, Issue 4, 2008, Pages 1336-1339

  Kim, Hyun Y ^a   Ki, Chang Seok ^b   Kang, Seok Jae ^a   Khang, Shin K ^c   Koh, Seong Ho ^a   Kim, Dong Won ^a   Kim, Seung H ^a   Sung, Il Hoon ^a  

^a Hanyang University   (South Korea)

^b Sungkyunkwan University School of Medicine   (South Korea)

^c University of Ulsan   (South Korea)

Author keywords

Autosomal dominant; Emery Dreifuss muscular dystrophy; Leu162Pro; LMNA gene; Mutation

Indexed keywords

ADULT; ARTICLE; CARDIOMYOPATHY; CASE REPORT; CHROMATIN; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE MUTATION; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AMINO ACID SUBSTITUTION; CHROMATIN; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; ENDOTHELIAL CELLS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LAMIN TYPE A; LEUCINE; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; NUCLEAR ENVELOPE; PEDIGREE; POINT MUTATION; PROLINE;

EID: 53549086418     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21066     Document Type: Article

References (17)

1. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999;21:285-288.
2. Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000;48:170-180.
3. Bonne G, Yaou RB, Beroud C, Boriani G, Brown S, de Visser M, et al. 108th ENMC international workshop, third workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands. Neuromuscul Disord 2003;13:508-515.
4. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, et al. 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 2002;70:726-736.
5. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 2003;300:2055.
6. Emery AEH. The muscular dystrophies. New York: Oxford University Press; 2001.
7. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, 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.
8. Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, 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 2004;61:690-694.
9. Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, et al. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve 2005;31:602-609.
10. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, et al. 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 2000;9:1453-1459.
11. Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 2006;129:1260-1268.
12. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, et al. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 2004;13:2493-2503.
13. Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 2002;71:426-431.
14. Rankin J, Ellard S. The laminopathies: a clinical review. Clin Genet 2006;70:261-274.
15. Sanna T, Dello Russo A, Toniolo D, Vytopil M, Pelargonio G, De Martino G, et al. Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations. Eur Heart J 2003;24:2227-2236.
16. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 2000;24:153-156.
17. van Berlo JH, de Voogt WG, van der Kooi AJ, van Tintelen JP, Bonne G, Yaou RB, et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death? J Mol Med 2005;83:79-83.