Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cardiomyopathy, familial hypertropic, 4

Disorder
OMIM #: #115197  (Click to access OMIM database)
Disorder: Cardiomyopathy, familial hypertropic, 4 
Also known as: CMH4
 
Clinical
Phenotype: hypertropic cardiomyopathy, arrhythmia / abnormal EKG, sudden death 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Old Colony Mennonite  
Gene: MYBPC3
Base Change: c.2373dupG
Amino Acid Change: p.Trp792Valfs*41
2   Amish, Old Order Mennonite  
Gene: MYBPC3
Base Change: c.3330+2T>G
Amino Acid Change: p.Asp1064Glyfs*38
Last updated: 2018-12-14 

References
Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE. (1998) Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 338(18):1248-57.
PubMed ID: 9562578 
Orton NC, Innes AM, Chudley AE, Bech-Hansen NT. (2008) Unique disease heritage of the Dutch-German Mennonite population. Am J Med Genet A 146A(8):1072-87.
PubMed ID: 18348259 
Xin B, Puffenberger E, Tumbush J, Bockoven JR, Wang H. (2007) Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Am J Med Genet A 143A(22):2662-7.
PubMed ID: 17937428 

Back