Phenotype: Cardiomyopathy, familial hypertrophic, 4


OMIM: 115197
Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

MYBPC3 || c.772G>A

Gene/Locus:    MYBPC3
Dna Change:    c.772G>A
Protein Change:    p.Glu258Lys
Mutation Type:    Substitution
Mutation Effect:    Missense
Location:    exon 6
Transcript:    NM_000256.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA14%NAGirolami F et al., 2006Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, . A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.. J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7

MYBPC3 || c.913_914delTT

Gene/Locus:    MYBPC3
Dna Change:    c.913_914delTT
Protein Change:    p.Phe305Profs*27
Mutation Type:    Deletion
Mutation Effect:    Frameshift
Location:    exon 11
Transcript:    NM_000256.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
ItalyNANA19.5% (19 patients/97 patients)NACalore C et al., 2015Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, . A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.. J. Med. Genet.. 2015; 0(0):

References

Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.J. Med. Genet.. 2015; 0(0):

Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7