The laminopathies: a clinical review

被引：139

作者：

Rankin, J.

Ellard, S.

机构：

[1] Royal Devon & Exeter NHS Fdn Trust, Dept Clin Genet, Exeter EX1 2ED, Devon, England

[2] Royal Devon & Exeter NHS Fdn Trust, Dept Mol Genet, Exeter EX1 2ED, Devon, England

[3] Peninsula Med Sch, Inst Biomed & Clin Sci, Exeter, Devon, England

来源：

CLINICAL GENETICS | 2006年 / 70卷 / 04期

关键词：

laminopathy; lamin A/C; LMNA; Emery Dreifuss; progeria;

D O I：

10.1111/j.1399-0004.2006.00677.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The laminopathies are a diverse group of conditions caused by mutations in the LMNA gene (MIM*150330). LMNA encodes the nuclear envelope proteins lamin A and lamin C by utilization of an alternative splice site in exon 10. The human LMNA gene was identified in 1986 but it was another 13 years before it was found to be the causative gene for a disease, namely Emery Dreifuss muscular dystrophy. Since then, a further eight clearly defined phenotypes have been associated with LMNA mutations. The diversity of these phenotypes is striking with features such as premature ageing, axonal neuropathy, lipodystrophy and myopathy being seen. These phenotypes and the emerging genotype/phenotype correlations are the subject of this review.

引用

页码：261 / 274

页数：14

共 95 条

[61] Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice [J].

Nikolova, V ;

Leimena, C ;

McMahon, AC ;

Tan, JC ;

Chandar, S ;

Jogia, D ;

Kesteven, SH ;

Michalicek, J ;

Otway, R ;

Verheyen, F ;

Rainer, S ;

Stewart, CL ;

Martin, D ;

Feneley, MP ;

Fatkin, D .

JOURNAL OF CLINICAL INVESTIGATION, 2004, 113 (03) :357-369

[62] The strange case of the 'lumper' lamin A/C gene and human premature ageing [J].

Novelli, G ;

D'Apice, MR .

TRENDS IN MOLECULAR MEDICINE, 2003, 9 (09) :370-375

[63] Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C [J].

Novelli, G ;

Muchir, A ;

Sangiuolo, F ;

Helbling-Leclerc, A ;

D'Apice, MR ;

Massart, C ;

Capon, F ;

Sbraccia, P ;

Federici, M ;

Lauro, R ;

Tudisco, C ;

Pallotta, R ;

Scarano, G ;

Dallapiccola, B ;

Merlini, L ;

Bonne, G .

AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (02) :426-431

[64] Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome [J].

Plasilova, M ;

Chattopadhyay, C ;

Pal, P ;

Schaub, NA ;

Buechner, SA ;

Mueller, H ;

Miny, P ;

Ghosh, A ;

Heinimann, K .

JOURNAL OF MEDICAL GENETICS, 2004, 41 (08) :609-614

[65] Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation -: art. no. 12 [J].

Reichart, B ;

Klafke, R ;

Dreger, C ;

Krüger, E ;

Motsch, I ;

Ewald, A ;

Schäfer, J ;

Reichmann, H ;

Müller, CR ;

Dabauvalle, MC .

BMC CELL BIOLOGY, 2004, 5 (1)

[66] Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations [J].

Sanna, T ;

Dello Russo, A ;

Toniolo, D ;

Vytopil, M ;

Pelargonio, G ;

De Martino, G ;

Ricci, E ;

Silvestri, G ;

Giglio, V ;

Messano, L ;

Zachara, E ;

Bellocci, F .

EUROPEAN HEART JOURNAL, 2003, 24 (24) :2227-2236

[67] Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations [J].

Sébillon, P ;

Bouchier, C ;

Bidot, LD ;

Bonne, G ;

Ahamed, K ;

Charron, P ;

Drouin-Garraud, V ;

Millaire, A ;

Desrumeaux, G ;

Benaïche, A ;

Charniot, JC ;

Schwartz, K ;

Villard, E ;

Komajda, M .

JOURNAL OF MEDICAL GENETICS, 2003, 40 (08) :560-567

[68] Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant [J].

Sevenants, L ;

Wouters, C ;

Sandre-Giovannoli, A ;

Devlieger, H ;

Devriendt, K ;

Oord, J ;

Marien, K ;

Lévy, N ;

Morren, MA .

EUROPEAN JOURNAL OF PEDIATRICS, 2005, 164 (05) :283-286

[69] Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations [J].

Sewry, CA ;

Brown, SC ;

Mercuri, E ;

Bonne, G ;

Feng, L ;

Camici, G ;

Morris, GE ;

Muntoni, F .

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY, 2001, 27 (04) :281-290

[70] LMNA, encoding lamin A/C, is mutated in partial lipodystrophy [J].

Shackleton, S ;

Lloyd, DJ ;

Jackson, SNJ ;

Evans, R ;

Niermeijer, MF ;

Singh, BM ;

Schmidt, H ;

Brabant, G ;

Kumar, S ;

Durrington, PN ;

Gregory, S ;

O'Rahilly, S ;

Trembath, RC .

NATURE GENETICS, 2000, 24 (02) :153-156

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