First description of germline mosaicism in familial hypertrophic cardiomyopathy

Journal of Medical Genetics

Volumn 37, Issue 2, 2000, Pages 132-134

  Forissier, Jean François ^a   Komajda, Michel ^b   Schwartz, Ketty ^b   Hainque, Bernard ^b   Richard, Pascale ^b   Briault, Sylvain ^c   Ledeuil, Céline ^b   Dubourg, Olivier ^d   Charbonnier, Bernard ^a   Carrier, Lucie ^b   Moraine, Claude ^c   Bonne, Gisèle ^b  

^a SERVICE DE DERMATOLOGIE   (France)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c CHU BRETONNEAU   (France)

^d HÔPITAL AMBROISE PARÉ   (France)

Author keywords

Genetics; Germline mosaicism; Hypertrophic cardiomyopathy; myosin heavy chain

Indexed keywords

DNA; DNA MARKER; MICROSATELLITE DNA; MYOSIN HEAVY CHAIN;

ADULT; ARTICLE; CLINICAL ARTICLE; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; FEMALE; GENE MUTATION; GERM LINE; HAPLOTYPE; HUMAN; HUMAN CELL; HYPERTROPHIC CARDIOMYOPATHY; INHERITANCE; LYMPHOCYTE; MALE; MOSAICISM; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0034099847     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.2.132     Document Type: Article

References (20)

1. Report of the 1995 World Health Organisation/ International Society and Federation of Cardiology Task Force on the definition and classification of cardiomyopathies. Circulation 1996;93:841-2.
2. Wigle AD, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy: clinical spectrum and treatment. Circulation 1995;92:1680-92.
3. Spirito P, Seidman CE, Mckenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med 1997;336:775-85.
4. Charron P, Dubourg O, Desnos M, et al. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in genotyped children. Eur Heart J 1998;19:1377-81.
5. Charron P, Dubourg O, Desnos M, et al. Diagnostic value of electrocardiography and echocardiography for familial hypertrophic cardiomyopathy in a genotyped adult population. Circulation 1997;96:214-19.
6. Bonne G, Carrier L, Richard P, Hainque B, Schwartz K. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res 1998;83:579-93.
7. Spirito P, Maron BJ. Relation between extent of left ventricular hypertrophy and diastolic filling abnormalities in hypertrophic cardiomyopathy. J Am Coll Cardiol 1990;15:808-13.
8. Maron BJ, Gottdiener JS, Epstein S. Patterns and significance of distribution of left ventricular hypertrophy in hypertrophic cardiomyopathy. A wide angle, two dimensional echocardiographic study of 125 patients. J Am Coll Cardiol 1981;48:418-28.
9. Liew CC, Sole MJ, Yamauchi-Takihar K, et al. Complete sequence and organization of the human cardiac β-myosin heavy chain gene. Nucleic Acids Res 1990;18:3647-51.
10. Fougerousse F, Dufour C, Roudaut C, Beckmann JS. Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH7). Hum Mol Genet 1992;1:64.
11. Watkins H, Rosenzweig T, Hwang DS, et al. Characteristic and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy. N Engl J Med 1992;326:1106-14.
12. Zlotogora J. Germ line mosaicism. Hum Genet 1998;102:381-6.
13. Bernard A. The importance of genetic mosaicism in human disease. N Engl J Med 1994;331:1447-9.
14. Putnam E, Park ES, Aalfs C, Hennekam R, Milewicz D, Parental somatic and germ line mosaicism for a FBN2 mutation and analysis of FBN2 transcripts levels in dermal fibroblasts. Am J Hum Genet 1997;60:818-27.
15. van Essen A, Abbs S, Baiger M, et al. Parental origin and germ line mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet 1992;88: 249-57.
16. Yates J, van Bakel I, Sepp T, et al. Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. Hum Mol Genet 1997;6:2265-9.
17. Watkins H, Thierfelder L, Hwang DS, McKenna WJ, Seidman JG, Seidman CE. Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest 1992;90:1666-71.
18. Rosenzweig A, Watkins HC, Hwang DS, et al. Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes. N Engl J Med 1991;325:1753-60.
19. Kwiatkowska J, Wigowska-Sowinska J, Napierala D, Slomski R, Kwiatkowski D. Mosaicism in tuberous sclerosis as a potential cause of the failure of molecular diagnosis. N Engl J Med 1999;340:703-7.
20. Vincent MC, Guiraud-Chaumeil C, Laporte J, Manouvrier-Hanu S, Mandel JL. Extensive germinal mosaicism in a family with X linked myotubular myopathy simulates genetic heterogeneity. J Med Genet 1998;35:241-3.