Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene

Journal of Medical Genetics

Volumn 43, Issue 10, 2006, Pages 829-832

  Lekanne Deprez, R H ^a   Muurling Vlietman, J J ^b   Hruda, J ^b   Baars, M J H ^b   Wijnaendts, L C D ^b   Stolte Dijkstra, I ^c   Alders, M ^a   Van Hagen, J M ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MYOSIN BINDING PROTEIN C;

ARTICLE; CARDIOMEGALY; CASE REPORT; CLINICAL FEATURE; DNA SEQUENCE; ELECTROCARDIOGRAM; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEART CATHETERIZATION; HEART SEPTUM DEFECT; HETEROZYGOSITY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LABORATORY TEST; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

CARDIOMYOPATHY, HYPERTROPHIC; CARRIER PROTEINS; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MYOCARDIUM; PEDIGREE;

EID: 33750475536     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.040329     Document Type: Article

References (19)

1. Maron BJ. Hypertrophic cardiomyopathy. A systematic review. JAMA 2002;287:1308-20.
2. Arad M, Seidman JG, Seidman CE. Phenotypic diversity in hypertrophic cardiomyopathy. Hum Mol Genet 2002;11:2499-506.
3. Cannon CR, Reeder GS, Bailey KR, Melton LJ, Gersh BJ. Natural history of hypertrophic cardiomyopathy: a population-based study, 1976 through 1990. Circulation 1995;92:2488-95.
4. Alders M, Jongbloed R, Deelen W, van den Wijngaard A, Doevendans P, Ten Cate F, Regitz-Zagrosek V, Vosberg HP, van Langen I, Wilde A, Dooijes D, Mannens M. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur Heart J 2003;24:1848-53.
5. Erdmann J, Daehmlow S, Wischke S, Senyuva M, Werner U, Raible J, Tanis N, Dyachenko S, Hummel M, Hetzer R, Regitz-Zagrosek V. Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy. Clin Genet 2003;64:339-49.
6. Van Driest SI, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Sarcomeric genotyping in hypertrophic cardiomyopathy. Mayo Clin Proc 2005;80:463-9.
7. Lipschultz SE, Sleeper IA, Towbin JA, Lowe AM, Orav EJ, Cox GF, Lurie PR, McCoy KL, McDonald MA, Messere JE, Colon SD. The incidence of pediatric cardiomyopathy in two regions of the United States. New Engl J Med 2003;348:1647-55.
8. Nugent AW, Daubeney PEF, Chondros P, Carlin JB, Cheung M, Wilkinson LC, Davis AM, Kahler SG, Chow CW, Wilkinson JL, Weintraub RG. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 2003;348:1639-46.
9. Maron W, Tajik AJ, Ruttenberg HD, Graham TP, Atwood GF, Victoria BE, Lie JT, Roberts WC. Hypertrophic cardiomyopathy in infants: clinical features and natural history. Circulation 1982;65:7-17.
10. Towbin JA, Lipschultz SE. Genetics of neonatal cardiomyopathy. Curr Opin Cardiol 1999;14:250-62.
11. Lekanne Deprez RH, Fijnvandraat AC, Ruijter JM, Moorman AF. Sensitivity and accuracy of quantitative real-time polymerase chain reaction using SYBR green I depends on cDNA synthesis conditions. Anal Biochem 2002;307:63-9.
12. Moolman JA, Reith S, Uhl K, Bailey S, Gautel M, Jeschke B, Fischer C, Ochs J, McKenna WJ, Klues H, Vosberg HP. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance. Circulation 2000;101:1396-402.
13. Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J Am Coll Cardiol 2004;44:1903-10.
14. Maquat LE. Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics. Nat Rev Mol Cell Biol 2004;5:89-99.
15. Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. EUROGENE Heart Failure Project: Hypertrophic Cardiomyopathy, Distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003;107:2227-32.
16. Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE. Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy. Circulation 2000;102:1950-5.
17. Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M. Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure. Heart 1998;80:548-58.
18. Sarikas A, Carrier L, Schenke C, Doll D, Flavigny J, Lindenberg KS, Eschenhagen T, Zolk O. Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants. Cardiovasc Res 2005;66:33-44.
19. Harris SP, Bartley CR, Hacker TA, McDonald KS, Douglas PS, Greaser ML, Powers PA, Moss RL. Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice. Circ Res 2002;90:594-601.