The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

被引：57

作者：

van Engelen, BGM ^{[1
]}

Muchir, A

Hutchison, CJ

van der Kooi, AJ

Bonne, G

Lammens, M

机构：

[1] Univ Med Ctr Nijmegen, Nijmegen Inst Neurol, Neuromuscular Ctr, NL-6500 HB Nijmegen, Netherlands

[2] Univ Med Ctr Nijmegen, Dept Pathol, NL-6500 HB Nijmegen, Netherlands

[3] Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75634 Paris, France

[4] Univ Durham, Sch Biol & Biomed Sci, Integrat Cell Biol Lab, Durham DH1 3HP, England

[5] Univ Amsterdam, Acad Med Ctr, Dept Neurol, NL-1105 AZ Amsterdam, Netherlands

来源：

NEUROLOGY | 2005年 / 64卷 / 02期

关键词：

D O I：

10.1212/01.WNL.0000149763.15180.00

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.

引用

页码：374 / 376

页数：3

共 9 条

[1] High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation [J].

Bécane, HM ;

Bonne, G ;

Varnous, S ;

Muchir, A ;

Ortega, V ;

Hammouda, E ;

Urtizberea, JA ;

Lavergne, T ;

Fardeau, M ;

Eymard, B ;

Weber, S ;

Schwartz, K ;

Duboc, D .

PACE-PACING AND CLINICAL ELECTROPHYSIOLOGY, 2000, 23 (11) :1661-1666

[2]

Bonne G, 2000, ANN NEUROL, V48, P170, DOI 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO

[3]

2-J

[4] Lamin A truncation in Hutchinson-Gilford progeria [J].

De Sandre-Giovannoli, A ;

Bernard, R ;

Cau, P ;

Navarro, C ;

Amiel, J ;

Boccaccio, I ;

Lyonnet, S ;

Stewart, CL ;

Munnich, A ;

Le Merrer, M ;

Lévy, N .

SCIENCE, 2003, 300 (5628) :2055-2055

[5] ANALYSIS OF PENA SHOKEIR PHENOTYPE [J].

HALL, JG .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 25 (01) :99-117

[6] Lamins: Building blocks or regulators of gene expression? [J].

Hutchison, CJ .

NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2002, 3 (11) :848-858

[7] A progeroid syndrome in mice is caused by defects in A-type lamins [J].

Mounkes, LC ;

Kozlov, S ;

Hernandez, L ;

Sullivan, T ;

Stewart, CL .

NATURE, 2003, 423 (6937) :298-301

[8] Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene [J].

Muchir, A ;

van Engelen, BG ;

Lammens, M ;

Mislow, JM ;

McNally, E ;

Schwartz, K ;

Bonne, G .

EXPERIMENTAL CELL RESEARCH, 2003, 291 (02) :352-362

[9]

Van Der Kooi A. J., 1996, Annals of Neurology, V39, P636, DOI 10.1002/ana.410390513

← 1 →