Recent advances in understanding the genetics of congenital heart defects

Current Opinion in Pediatrics

Volumn 25, Issue 5, 2013, Pages 561-566

  Gelb, Bruce D ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Congenital heart defect; Copy number variants; Exome sequencing; Genetics

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); COLLAGEN TYPE 6 ALPHA 1; COLLAGEN TYPE 6 ALPHA 2; CRELD1 PROTEIN; FIBULIN; FIBULIN 2; FOLIC ACID; FRIZZLED PROTEIN; HOMOCYSTEINE; METHIONINE SYNTHASE REDUCTASE; PROTEIN; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR GATA 5; TRANSCRIPTION FACTOR SP1; TRANSCRIPTION FACTOR TBX5; UNCLASSIFIED DRUG;

ALLELE; ATRIOVENTRICULAR SEPTAL DEFECT; BIOTINYLATION; CASE CONTROL STUDY; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMOSOME 8P; COMORBIDITY; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; COSTELLO SYNDROME; DISEASE PREDISPOSITION; DISEASE SEVERITY; DNA POLYMORPHISM; DNA SEQUENCE; DOWN SYNDROME; EXOME; FALLOT TETRALOGY; GAIN OF FUNCTION MUTATION; GENE DUPLICATION; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC TRAIT; GENETIC VARIABILITY; GENETICS; GENOMICS; GENOTYPE; GENOTYPE ENVIRONMENT INTERACTION; HUMAN; HYPOPLASTIC LEFT HEART SYNDROME; IN VITRO STUDY; MOLECULAR GENETICS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REVIEW; SIGNAL TRANSDUCTION; VITAMIN SUPPLEMENTATION; CHILD; GENOME-WIDE ASSOCIATION STUDY; INFANT; METABOLISM; MODIFIER GENE; MUTATION; PATHOPHYSIOLOGY; PRESCHOOL CHILD;

CHILD; CHILD, PRESCHOOL; DNA COPY NUMBER VARIATIONS; FOLIC ACID; GENE-ENVIRONMENT INTERACTION; GENES, MODIFIER; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HOMOCYSTEINE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION;

EID: 84888301672     PISSN: 10408703     EISSN: 1531698X     Source Type: Journal    
DOI: 10.1097/MOP.0b013e3283648826     Document Type: Review

References (24)

1. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112:707-720.
2. Gelb B, Brueckner M, Chung W, et al. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res 2013; 112:698-706.
3. Zaidi S, Choi M, Wakimoto H, et al. De novo mutations in histonemodifying genes in congenital heart disease. Nature 2013; 498:220-223.
4. Gelb B, Brueckner M, Chung W, et al. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results. Circ Res 2013; 112:698-706.
5. Zaidi S, Choi M, Wakimoto H, et al. De novo mutations in histonemodifying genes in congenital heart disease. Nature 2013; 498:220-223.
6. O'Roak BJ, Vives L, Fu W, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science 2012; 338:1619-1622.
7. Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006; 444:444-454.
8. Southard AE, Edelmann LJ, Gelb BD. Role of copy number variants in structural birth defects. Pediatrics 2012; 129:755-763.
9. Hitz MP, Lemieux-Perreault LP, Marshall C, et al. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 2012; 8:e1002903.
10. Payne AR, Chang SW, Koenig SN, et al. Submicroscopic chromosomal copy number variations identified in children with hypoplastic left heart syndrome. Pediatr Cardiol 2012; 33:757-763.
11. Silversides CK, Lionel AC, Costain G, et al. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet 2012; 8:e1002843.
12. Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009; 41:931-935.
13. Soemedi R, Topf A, Wilson IJ, et al. Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls. Hum Mol Genet 2012; 21:1513-1520.
14. Soemedi R, Wilson IJ, Bentham J, et al. Contribution of global rare copynumber variants to the risk of sporadic congenital heart disease. Am J Hum Genet 2012; 91:489-501.
15. Tomita-Mitchell A, Mahnke DK, Struble CA, et al. Human gene copy number spectra analysis in congenital heart malformations. Physiol Genomics 2012; 44:518-541.
16. Priest JR, Girirajan S, Vu TH, et al. Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects. Am J Med Genet A 2012; 158A:1279-1284.
17. Bailey LB, Berry RJ. Folic acid supplementation and the occurrence of congenital heart defects, orofacial clefts, multiple births, and miscarriage. Am J Clin Nutr 2005; 81:1213S-1217S.
18. Wang W, Wang Y, Gong F, et al. MTHFR C677T polymorphism and risk of congenital heart defects: evidence from 29 case-control and TDT studies. PLoS One 2013; 8:e58041.
19. Yin M, Dong L, Zheng J, et al. Meta analysis of the association between MTHFR C677T polymorphism and the risk of congenital heart defects. Ann Hum Genet 2012; 76:9-16.
20. Zhao JY, Yang XY, Gong XH, et al. Functional variant in methionine synthase reductase intron-1 significantly increases the risk of congenital heart disease in the Han Chinese population. Circulation 2012; 125:482-490.
21. Zhao JY, Yang XY, Shi KH, et al. A functional variant in the cystathionine betasynthase gene promoter significantly reduces congenital heart disease susceptibility in a Han Chinese population. Cell Res 2012. [Epub ahead of print]
22. Dunham I, Kundaje A, Aldred SF, et al. An integrated encyclopedia of DNA elements in the human genome. Nature 2012; 489:57-74.
23. Smemo S, Campos LC, Moskowitz IP, et al. Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease. Hum Mol Genet 2012; 21:3255-3263.
24. Lage K, Greenway SC, Rosenfeld JA, et al. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development. Proc Natl Acad Sci U S A 2012; 109:14035-14040.