PRDM16-genotype and phenotype

Arndt AK et al. Fine Mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy. Am J Hum Genet. 2013;93:67-77. PMID: 23768516.

Battaglia A et al. Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics. 2008;121:404-10. PMID: 18245432.

Brazil a et al. Delineating the phenotype of 1p36 deletion in adolescents and adults. Am J Med Genet A. 2014;164A(10):2496-503. PMID: 25044719.

Delplancq G et al. Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes. Am J Med Genet C Semin Med Genet. 2020;184(1):129-135. PMID: 31965688.

Heilstedt HA et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003;72:1200-12. PMID: 12687501.

Shapira SK et al. Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome. Am J Hum Genet. 1997;61:64250. PMID: 9326330

Left ventricular noncompaction cardiomyopathy, dilated cardiomyopathy

Klaassen S et al. Mutations in sarcomere protein genes in left ventricular noncompaction. Circulation 2008; 117:2893‐901. PMID: 18506004.

McNally EM et al. Genetic mutations and mechanisms in dilated cardiomyopathy. J Clin Invest. 2013;123:19-26. PMID: 23281406

McNally EM et al. Dilated cardiomyopathy: Genetic determinants and mechanisms. Circulation research. 2017;121:731-748. PMID: 28912180.

Petersen SE et al. Left ventricular non-compaction: Insights from cardiovascular magnetic resonance imaging.J Am Coll Cardiol. 2005;46:101-105. PMID: 15992642.

Probst S et al. Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype. Circ Cardiovasc Genet 2011; 4:367-374. PMID: 21551322.

Jenni R et al. Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart. 2001;86(6):666-71. PMID: 11711464.

Jenni R et al. Isolated ventricular non-compaction of the myocardium in adults. Heart. 2007;93:11-15. PMID: 16670098.

van Waning JI et al. Cardiac phenotypes, genetics, and risks in familial noncompaction cardiomyopathy. J Am Coll Cardiol. 2019;73:1601-1611. PMID: 30947911.

Wilcox JE et al. Genetic cardiomyopathies. Current opinion in cardiology. 2018;33:354-362. PMID: 29561320.