OMIM: 192600Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | MYH7 |
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| Dna Change: | c.2605C>G |
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| Protein Change: | p.Arg869Gly |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 21 |
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| Transcript: | NM_000257.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 3 patients/ 1family | NA | Richard P et al., 2000Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, Desnos M, Bouhour JB, Schwartz K, Daubert JC, Komajda M, Hainque B, . Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.. J. Mol. Cell. Cardiol.. 2000; 32(8):1575-83 |
| Gene/Locus: | MYBPC3 |
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| Dna Change: | c.1928-2A>G |
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| Protein Change: | |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Splice site |
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| Location: | intron 20 |
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| Transcript: | NM_000256.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | NA | 34 patients/9 unrelated families | NA | Teirlinck CH et al., 2012Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P, . A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.. BMC Med. Genet.. 2012; 13(0):105 |
References
Richard P, Charron P, Leclercq C, Ledeuil C, Carrier L, Dubourg O, Desnos M, Bouhour JB, Schwartz K, Daubert JC, Komajda M, Hainque B, Homozygotes for a R869G mutation in the beta -myosin heavy chain gene have a severe form of familial hypertrophic cardiomyopathy.J. Mol. Cell. Cardiol.. 2000; 32(8):1575-83
Teirlinck CH, Senni F, Malti RE, Majoor-Krakauer D, Fellmann F, Millat G, André-Fouët X, Pernot F, Stumpf M, Boutarin J, Bouvagnet P, A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.BMC Med. Genet.. 2012; 13(0):105