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, reduced systolic function, pericardial effusion, cardiomegaly, thickened septum, other cardiac irregularities, arrhythmia, syncope, stroke, heart failure, sudden death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant (incomplete penetrance) |
| 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: | 2022-11-03 |
| References |
|---|
| Lynch MT, Maloney KA, Pollin TI, Streeten EA, Xu H; Regeneron Genetics Center, Shuldiner AR, Van Hout CV, Gonzaga-Jauregui C, Mitchell BD. (2021) The burden of pathogenic variants in clinically actionable genes in a founder population. Am J Med Genet A Nov;185(11):3476-3484. PubMed ID: 34467620 |
| 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 |
| Redin C, Pavlidou DC, Bhuiyan Z, Porretta AP, Monney P, Bedoni N, Maurer F, Sekarski N, Atallah I, Émeline D, Jeanrenaud X, Pruvot E, Fellay J, Superti-Furga A. (2022) The Amish NM_000256.3:c.3330+2T>G splice variant in MYBPC3 associated with hypertrophic cardiomyopathy is an ancient Swiss mutation. Eur J Med Genet Sep 23:104627. PubMed ID: 36162733 |
| 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 |
| Zahka K, Kalidas K, Simpson MA, Cross H, Keller BB, Galambos C, Gurtz K, Patton MA, Crosby AH. (2008) Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart Oct;94(10):1326-30. PubMed ID: 18467358 |
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