Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve

Pediatric Research

Volumn 76, Issue 2, 2014, Pages 211-216

  Bonachea, Elizabeth M ^a   Chang, Sheng Wei ^b   Zender, Gloria ^b   Lahaye, Stephanie ^a,b   Fitzgerald Butt, Sara ^a,b   Mcbride, Kim L ^a,b   Garg, Vidu ^a,b  

^a OHIO STATE UNIVERSITY   (United States)

^b NATIONWIDE CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 5; GATA5 PROTEIN, HUMAN; PRIMER DNA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AORTA COARCTATION; ARTICLE; BICUSPID AORTIC VALVE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EXOME; FEMALE; GATA5 GENE; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; TRANSCRIPTION INITIATION; AORTA VALVE; CONGENITAL MALFORMATION; DNA SEQUENCE; GENETIC VARIABILITY; GENETICS; IMMUNOBLOTTING; MISSENSE MUTATION; MOLECULAR GENETICS; PATHOLOGY; PHENOTYPE; UNITED STATES; VALVULAR HEART DISEASE;

AORTIC VALVE; BASE SEQUENCE; COHORT STUDIES; DNA PRIMERS; FEMALE; GATA5 TRANSCRIPTION FACTOR; GENETIC VARIATION; HEART VALVE DISEASES; HUMANS; IMMUNOBLOTTING; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OHIO; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84904654600     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1038/pr.2014.67     Document Type: Article

References (32)

1. Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002;39:1890-900
2. Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000;83:81-5
3. Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004;44:138-43
4. Fernandes SM, Sanders SP, Khairy P, et al. Morphology of bicuspid aortic valve in children and adolescents. J Am Coll Cardiol 2004;44:1648-51
5. Fernández B, Durán AC, Fernández-Gallego T, et al. Bicuspid aortic valves with different spatial orientations of the leaflets are distinct etiological entities. J Am Coll Cardiol 2009;54:2312-8
6. Emanuel R, Withers R, O'Brien K, Ross P, Feizi O. Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 1978;40:1402-7
7. Huntington K, Hunter AG, Chan KL. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 1997;30:1809-12
8. Martin LJ, Ramachandran V, Cripe LH, et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Hum Genet 2007;121:275-84
9. Foffa I, Ait Alì L, Panesi P, et al. Sequencing of NOTCH1, GATA5, TGFBR1 and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med Genet 2013;14:44
10. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005;437:270-4
11. McBride KL, Riley MF, Zender GA, et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008;17:2886-93
12. Mohamed SA, Aherrahrou Z, Liptau H, et al. Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun 2006;345:1460-5
13. Padang R, Bagnall RD, Richmond DR, Bannon PG, Semsarian C. Rare non-synonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol 2012;53:277-81
14. Laforest B, Andelfinger G, Nemer M. Loss of Gata5 in mice leads to bicuspid aortic valve. J Clin Invest 2011;121:2876-87
15. Molkentin JD. The zinc finger-containing transcription factors GATA-4, -5, and -6. Ubiquitously expressed regulators of tissue-specific gene expression. J Biol Chem 2000;275:38949-52
16. Morrisey EE, Ip HS, Tang Z, Lu MM, Parmacek MS. GATA-5: A transcriptional activator expressed in a novel temporally and spatiallyrestricted pattern during embryonic development. Dev Biol 1997;183: 21-36
17. Gu JY, Xu JH, Yu H, Yang YQ. Novel GATA5 loss-of-function mutations underlie familial atrial fibrillation. Clinics (Sao Paulo) 2012;67: 1393-9
18. Wei D, Bao H, Liu XY, et al. GATA5 loss-of-function mutations underlie tetralogy of fallot. Int J Med Sci 2013;10:34-42
19. Wei D, Bao H, Zhou N, Zheng GF, Liu XY, Yang YQ. GATA5 loss-of-function mutation responsible for the congenital ventriculoseptal defect. Pediatr Cardiol 2013;34:504-11
20. Andelfinger G, Tapper AR, Welch RC, Vanoye CG, George AL Jr, Benson DW. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002;71: 663-8
21. Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alpha-Actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007;39:1488-93
22. Biben C, Weber R, Kesteven S, et al. Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5. Circ Res 2000;87:888-95
23. Lee TC, Zhao YD, Courtman DW, Stewart DJ. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation 2000;101:2345-8
24. Majumdar R, Yagubyan M, Sarkar G, Bolander ME, Sundt TM 3rd. Bicuspid aortic valve and ascending aortic aneurysm are not associated with germline or somatic homeobox NKX2-5 gene polymorphism in 19 patients. J Thorac Cardiovasc Surg 2006;131:1301-5
25. Thomas PS, Sridurongrit S, Ruiz-Lozano P, Kaartinen V. Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development. PLoS One 2012;7:e35539
26. Maitra M, Koenig SN, Srivastava D, Garg V. Identification of GATA6 sequence variants in patients with congenital heart defects. Pediatr Res 2010;68:281-5
27. Schluterman MK, Krysiak AE, Kathiriya IS, et al. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. Am J Med Genet A 2007;143A:817-23
28. Tomita-Mitchell A, Maslen CL, Morris CD, Garg V, Goldmuntz E. GATA4 sequence variants in patients with congenital heart disease. J Med Genet 2007;44:779-83
29. Nemer G, Nemer M. Cooperative interaction between GATA5 and NFATc regulates endothelial-endocardial differentiation of cardiogenic cells. Development 2002;129:4045-55
30. Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP). Seattle, WA http://evs.gs.washington.edu/EVS/.
31. Abecasis GR, Auton A, Brooks LD, et al. An integrated map of genetic variation from 1,092 human genomes. Nature 2012;491:56-65
32. Chen B, Yates E, Huang Y, et al. Alternative promoter and GATA5 transcripts in mouse. Am J Physiol Gastrointest Liver Physiol 2009;297: G1214-22.