Literature DB >> 8358441

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11.

L Carrier1, C Hengstenberg, J S Beckmann, P Guicheney, C Dufour, J Bercovici, E Dausse, I Berebbi-Bertrand, C Wisnewsky, D Pulvenis.   

Abstract

Familial hypertrophic cardiomyopathy (FHC) is a cardiac disorder transmitted as an autosomal dominant trait. FHC has been shown to be genetically heterogeneous with less than 50% of published pedigrees being associated with mutations in the beta myosin heavy chain (beta-MHC) gene on chromosome 14q11-q12. A second locus has recently been reported on chromosome 1. We examined the segregation of microsatellite markers in a French pedigree for which the disease is not linked to beta-MHC gene. We found significant linkage of the disease locus to several (CA)n repeats located on chromosome 11 (lod scores between +3.3 and +4.98). The data suggest the localization of the novel FHC gene in a region spanning 17 centiMorgans.

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Year:  1993        PMID: 8358441     DOI: 10.1038/ng0793-311

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


  35 in total

1.  Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

Authors:  Y L Ko; J J Chen; T K Tang; J J Cheng; S Y Lin; Y C Liou; P Kuan; C W Wu; W P Lien; C C Liew
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 2.  MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.

Authors:  Verena Behrens-Gawlik; Giulia Mearini; Christina Gedicke-Hornung; Pascale Richard; Lucie Carrier
Journal:  Pflugers Arch       Date:  2013-12-12       Impact factor: 3.657

3.  Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

Authors:  B Yu; J A French; L Carrier; R W Jeremy; D R McTaggart; M R Nicholson; B Hambly; C Semsarian; D R Richmond; K Schwartz; R J Trent
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

Review 4.  Genetics of human cardiovascular disease.

Authors:  Sekar Kathiresan; Deepak Srivastava
Journal:  Cell       Date:  2012-03-16       Impact factor: 41.582

5.  Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

Authors:  A J van der Kooi; M van Meegen; T M Ledderhof; E M McNally; M de Visser; P A Bolhuis
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 6.  Nanomolar ATP binding to single myosin cross-bridges in rigor: a molecular approach to studying myosin ATP kinetics using single human cardiomyocytes.

Authors:  Elvis Pandzic; Christian A Morkel; Amy Li; Roger Cooke; Renee M Whan; Cristobal G Dos Remedios
Journal:  Biophys Rev       Date:  2020-07-09

7.  Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene.

Authors:  K Yamauchi-Takihara; C Nakajima-Taniguchi; H Matsui; Y Fujio; K Kunisada; S Nagata; T Kishimoto
Journal:  Heart       Date:  1996-07       Impact factor: 5.994

Review 8.  Molecular basis of hypertrophic and dilated cardiomyopathy.

Authors:  A J Marian; R Roberts
Journal:  Tex Heart Inst J       Date:  1994

9.  Restrictive and hypertrophic cardiomyopathies in Noonan syndrome: the overlap syndromes.

Authors:  P T Wilmshurst; D Katritsis
Journal:  Heart       Date:  1996-01       Impact factor: 5.994

10.  Mapping the locus for familial hypertrophic cardiomyopathy to chromosome 11 in a family with a case of apical hypertrophic cardiomyopathy of the Japanese type.

Authors:  Y L Ko; J J Chen; T K Tang; M S Teng; S Y Lin; P Kuan; C W Wu; W P Lien; C C Liew
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

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