Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Diane Fatkin; Calum MacRae; Takeshi Sasaki; Matthew R. Wolff; Maurizio Porcu; Michael Frenneaux; John Atherton; Humberto J. Vidaillet; Serena Spudich; Umberto De Girolami; J. G. Seidman; Francesco Muntoni; Gerry Müehle; Wendy Johnson; Barbara McDonough; Christine E. Seidman

doi:10.1056/NEJM199912023412302

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Diane Fatkin, Calum MacRae, Takeshi Sasaki, Matthew R. Wolff, Maurizio Porcu, Michael Frenneaux, John Atherton, Humberto J. Vidaillet, Serena Spudich, Umberto De Girolami, J. G. Seidman, Francesco Muntoni, Gerry Müehle, Wendy Johnson, Barbara McDonough, Christine E. Seidman

Research output: Contribution to journal › Article › peer-review

1202 Citations (Scopus)

Abstract

Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

Original language	English
Pages (from-to)	1715-24
Number of pages	10
Journal	New England Journal of Medicine
Volume	341
Issue number	23
DOIs	https://doi.org/10.1056/NEJM199912023412302
Publication status	Published - 2 Dec 1999

Keywords

Adolescent
Adult
Amino Acid Sequence
Arrhythmias, Cardiac
Cardiomyopathy, Dilated
Chromosome Mapping
Chromosomes, Human, Pair 1
Female
Genes, Dominant
Genotype
Humans
Lamin Type A
Lamins
Male
Middle Aged
Molecular Sequence Data
Muscular Dystrophy, Emery-Dreifuss
Mutation, Missense
Nuclear Proteins
Pedigree
Protein Isoforms
Sequence Analysis, DNA

Access to Document

10.1056/NEJM199912023412302

Cite this

Fatkin, D., MacRae, C., Sasaki, T., Wolff, M. R., Porcu, M., Frenneaux, M., Atherton, J., Vidaillet, H. J., Spudich, S., De Girolami, U., Seidman, J. G., Muntoni, F., Müehle, G., Johnson, W., McDonough, B., & Seidman, C. E. (1999). Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New England Journal of Medicine, 341(23), 1715-24. https://doi.org/10.1056/NEJM199912023412302

@article{3a5527a017b3480d81b5f108ee6e3801,

title = "Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease",

abstract = "Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.",

keywords = "Adolescent, Adult, Amino Acid Sequence, Arrhythmias, Cardiac, Cardiomyopathy, Dilated, Chromosome Mapping, Chromosomes, Human, Pair 1, Female, Genes, Dominant, Genotype, Humans, Lamin Type A, Lamins, Male, Middle Aged, Molecular Sequence Data, Muscular Dystrophy, Emery-Dreifuss, Mutation, Missense, Nuclear Proteins, Pedigree, Protein Isoforms, Sequence Analysis, DNA",

author = "Diane Fatkin and Calum MacRae and Takeshi Sasaki and Wolff, {Matthew R.} and Maurizio Porcu and Michael Frenneaux and John Atherton and Vidaillet, {Humberto J.} and Serena Spudich and {De Girolami}, Umberto and Seidman, {J. G.} and Francesco Muntoni and Gerry M{\"u}ehle and Wendy Johnson and Barbara McDonough and Seidman, {Christine E.}",

year = "1999",

month = dec,

day = "2",

doi = "10.1056/NEJM199912023412302",

language = "English",

volume = "341",

pages = "1715--24",

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Fatkin, D, MacRae, C, Sasaki, T, Wolff, MR, Porcu, M, Frenneaux, M, Atherton, J, Vidaillet, HJ, Spudich, S, De Girolami, U, Seidman, JG, Muntoni, F, Müehle, G, Johnson, W, McDonough, B & Seidman, CE 1999, 'Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease', New England Journal of Medicine, vol. 341, no. 23, pp. 1715-24. https://doi.org/10.1056/NEJM199912023412302

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T1 - Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

AU - Fatkin, Diane

AU - MacRae, Calum

AU - Sasaki, Takeshi

AU - Wolff, Matthew R.

AU - Porcu, Maurizio

AU - Frenneaux, Michael

AU - Atherton, John

AU - Vidaillet, Humberto J.

AU - Spudich, Serena

AU - De Girolami, Umberto

AU - Seidman, J. G.

AU - Muntoni, Francesco

AU - Müehle, Gerry

AU - Johnson, Wendy

AU - McDonough, Barbara

AU - Seidman, Christine E.

PY - 1999/12/2

Y1 - 1999/12/2

N2 - Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

AB - Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

KW - Adolescent

KW - Adult

KW - Amino Acid Sequence

KW - Arrhythmias, Cardiac

KW - Cardiomyopathy, Dilated

KW - Chromosome Mapping

KW - Chromosomes, Human, Pair 1

KW - Female

KW - Genes, Dominant

KW - Genotype

KW - Humans

KW - Lamin Type A

KW - Lamins

KW - Male

KW - Middle Aged

KW - Molecular Sequence Data

KW - Muscular Dystrophy, Emery-Dreifuss

KW - Mutation, Missense

KW - Nuclear Proteins

KW - Pedigree

KW - Protein Isoforms

KW - Sequence Analysis, DNA

U2 - 10.1056/NEJM199912023412302

DO - 10.1056/NEJM199912023412302

M3 - Article

C2 - 10580070

SN - 0028-4793

VL - 341

SP - 1715

EP - 1724

JO - New England Journal of Medicine

JF - New England Journal of Medicine

IS - 23

ER -