Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32

Jean Bernard Durand, Linda L. Bachinski, Lisa C. Bieling, Grazyna Z. Czernuszewicz, Antoine B. Abchee, Qun Tao Yu, Terry Tapscott, Rita Hill, Jonah Ifegwu, A. J. Marian, Ramon Brugada, Steven Daiger, Jane M. Gregoritch, Jeffrey L. Anderson, Miguel Quiñones, Jeffrey Towbin, Robert Roberts

Research output: Contribution to journalArticle

118 Citations (Scopus)

Abstract

Background Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75% mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20% of cases are familial. Methods and Results A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of ≥2.7 cm/m 2 with an ejection fraction ≤50% in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90%, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. Conclusions The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.

Original languageEnglish (US)
Pages (from-to)3387-3389
Number of pages3
JournalCirculation
Volume92
Issue number12
DOIs
StatePublished - Dec 15 1995
Externally publishedYes

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Penetrance
Hypertrophic Cardiomyopathy
DNA-Binding Proteins
Dilated Cardiomyopathy
Human Genome
Renin
Microsatellite Repeats
Physical Examination
Echocardiography
Dilatation
Heart Failure
Chromosomes
Transplantation
History
Costs and Cost Analysis
Polymerase Chain Reaction
Mortality
DNA
Genes
Familial dilated cardiomyopathy

All Science Journal Classification (ASJC) codes

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

Durand, J. B., Bachinski, L. L., Bieling, L. C., Czernuszewicz, G. Z., Abchee, A. B., Yu, Q. T., ... Roberts, R. (1995). Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation, 92(12), 3387-3389. https://doi.org/10.1161/01.CIR.92.12.3387

Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. / Durand, Jean Bernard; Bachinski, Linda L.; Bieling, Lisa C.; Czernuszewicz, Grazyna Z.; Abchee, Antoine B.; Yu, Qun Tao; Tapscott, Terry; Hill, Rita; Ifegwu, Jonah; Marian, A. J.; Brugada, Ramon; Daiger, Steven; Gregoritch, Jane M.; Anderson, Jeffrey L.; Quiñones, Miguel; Towbin, Jeffrey; Roberts, Robert.

In: Circulation, Vol. 92, No. 12, 15.12.1995, p. 3387-3389.

Research output: Contribution to journalArticle

Durand, JB, Bachinski, LL, Bieling, LC, Czernuszewicz, GZ, Abchee, AB, Yu, QT, Tapscott, T, Hill, R, Ifegwu, J, Marian, AJ, Brugada, R, Daiger, S, Gregoritch, JM, Anderson, JL, Quiñones, M, Towbin, J & Roberts, R 1995, 'Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32', Circulation, vol. 92, no. 12, pp. 3387-3389. https://doi.org/10.1161/01.CIR.92.12.3387
Durand JB, Bachinski LL, Bieling LC, Czernuszewicz GZ, Abchee AB, Yu QT et al. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. Circulation. 1995 Dec 15;92(12):3387-3389. https://doi.org/10.1161/01.CIR.92.12.3387
Durand, Jean Bernard ; Bachinski, Linda L. ; Bieling, Lisa C. ; Czernuszewicz, Grazyna Z. ; Abchee, Antoine B. ; Yu, Qun Tao ; Tapscott, Terry ; Hill, Rita ; Ifegwu, Jonah ; Marian, A. J. ; Brugada, Ramon ; Daiger, Steven ; Gregoritch, Jane M. ; Anderson, Jeffrey L. ; Quiñones, Miguel ; Towbin, Jeffrey ; Roberts, Robert. / Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. In: Circulation. 1995 ; Vol. 92, No. 12. pp. 3387-3389.
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abstract = "Background Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75{\%} mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20{\%} of cases are familial. Methods and Results A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of ≥2.7 cm/m 2 with an ejection fraction ≤50{\%} in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90{\%}, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. Conclusions The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.",
author = "Durand, {Jean Bernard} and Bachinski, {Linda L.} and Bieling, {Lisa C.} and Czernuszewicz, {Grazyna Z.} and Abchee, {Antoine B.} and Yu, {Qun Tao} and Terry Tapscott and Rita Hill and Jonah Ifegwu and Marian, {A. J.} and Ramon Brugada and Steven Daiger and Gregoritch, {Jane M.} and Anderson, {Jeffrey L.} and Miguel Qui{\~n}ones and Jeffrey Towbin and Robert Roberts",
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T1 - Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32

AU - Durand, Jean Bernard

AU - Bachinski, Linda L.

AU - Bieling, Lisa C.

AU - Czernuszewicz, Grazyna Z.

AU - Abchee, Antoine B.

AU - Yu, Qun Tao

AU - Tapscott, Terry

AU - Hill, Rita

AU - Ifegwu, Jonah

AU - Marian, A. J.

AU - Brugada, Ramon

AU - Daiger, Steven

AU - Gregoritch, Jane M.

AU - Anderson, Jeffrey L.

AU - Quiñones, Miguel

AU - Towbin, Jeffrey

AU - Roberts, Robert

PY - 1995/12/15

Y1 - 1995/12/15

N2 - Background Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75% mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20% of cases are familial. Methods and Results A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of ≥2.7 cm/m 2 with an ejection fraction ≤50% in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90%, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. Conclusions The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.

AB - Background Dilated cardiomyopathy, characterized by ventricular dilatation and decreased systolic contraction, is twofold to threefold more common as a cause of heart failure than hypertrophic cardiomyopathy and costs several billion dollars annually. The idiopathic form occurring early in life, with a 75% mortality in 5 years, is a common reason for transplantation. It is estimated that at least 20% of cases are familial. Methods and Results A family of 46 members spanning four generations underwent history and physical examinations, echocardiographic analysis, and blood sampling for genotyping. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of ≥2.7 cm/m 2 with an ejection fraction ≤50% in the absence of other potential causes. DNA from all members was analyzed by polymerase chain reaction for amplification of short tandem-repeat polymorphic markers located every 10 cM throughout the human genome. Assuming a penetrance of 90%, linkage analysis was performed to map the responsible chromosomal locus. Linkage analysis, after 412 markers were analyzed, indicated the locus to be on chromosome 1q32, with a peak multipoint logarithm of the odds score at D1S414 of 6.37. Conclusions The locus identified in this study for familial dilated cardiomyopathy, 1q32, is rich in candidate genes, such as MEF-2, renin, and helix loop helix DNA binding protein MYF-4. Identification of the genetic defect could provide insight into the molecular basis for the cardiac dilatory response in both familial and acquired disorders.

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