The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: Mutation or polymorphism?

Pediatric Cardiology

Volumn 29, Issue 1, 2008, Pages 126-129

  Akcaboy M I ^a   Cengiz, F B ^a   Inceoglu B ^a   Ucar T ^a   Atalay, S ^a   Tutar, E ^a   Tekin, M ^a  

^a ANKARA UNIVERSITY   (Turkey)

Author keywords

Conotruncal heart anomalies; Mutation, Polymorphism; NKX2 5; P.R25C

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

AMINO ACID SEQUENCE; ARTERIAL TRUNK; ARTICLE; CHILD; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; FALLOT TETRALOGY; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; GREAT VESSELS TRANSPOSITION; HEART RIGHT VENTRICLE DOUBLE OUTLET; HETEROZYGOTE; HUMAN; IN VITRO STUDY; INFANT; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PATHOGENICITY; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PULMONARY VALVE ATRESIA; TURKEY (REPUBLIC);

ARGININE; CHILD; CHILD, PRESCHOOL; CYSTEINE; DOUBLE OUTLET RIGHT VENTRICLE; FEMALE; HEART DEFECTS, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; PULMONARY ATRESIA; TETRALOGY OF FALLOT; TRANSCRIPTION FACTORS; TRANSPOSITION OF GREAT VESSELS; TRUNCUS ARTERIOSUS, PERSISTENT;

EID: 38349171168     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-007-9058-2     Document Type: Article

References (13)

1. Benson W, Silberbach M, McHugh A, Cottrill C, Zhang Y, Riggs S, Smalls O, Johnson MC, Watson M, Seidman JG, Seidman CE, Plowden J, Kugler JD (1999) Mutations in the cardiac transcription factor NKX2-5 affect diverse cardiac development pathways. J Clin Invest 104:1567-1573
2. Buettner-Reamon M, Borlak J (2004) Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J Med Genet 41:684-690
3. Elliott D, Kirk E, Yeoh T, Chandar S, McKenzie F, Taylor P, Grossfeld P, Fatkin D, Jones O, Hayes P, Feneley M, Harvey R (2003) Cardiac homeobox gene NKX2-5 mutations and congenital heart disease. J Am Coll Cardiol 41:2072-2076
4. Goldmuntz E, Geiger E, Benson W (2001) NKX2-5 mutations in patients with tetralogy of Fallot. Circulation 104:2565-2568
5. Grow MW, Krieg PA (1998) Tinman function is essential for vertebrate heart development: Elimination of cardiac differentiation by dominant inhibitory mutants of the tinman- related genes, XNkx2-3 and XNkx2-5. Dev Biol 204:187-196
6. Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, Imamura S, Takao A, Nakazawa M, Matsuoka R (2005) Phenotypes with GATA4 or NKX2-5 mutations in familial atrial septal defect. Am J Med Gen 135A:47-52
7. Hosoda T, Komuro I, Shiojima I, Hiroi Y, Harada M, Murakawa Y, Yazaki Y (1999) Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient. Jpn Circ 63:425-426
8. Ikeda Y, Hiroi Y, Hosoda T, Utsunomiya T, Matsuo S, Ito T, Inoue J, Sumiyoshi T, Takano H, Nagai R, Komuro I (2002) Novel point mutation in the cardiac transcription factor CSX/NKX2-5 associated with congenital heart disease. Circ J 66:561-563
9. Kasahara H, Benson W (2004) Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies. Cardiovasc Res 64:40-51
10. Komuro I, Izumo S (1993) Csx: A murine homeobox-containing gene specifically expressed in the developing heart. Proc Natl Acad Sci USA 90:8145-8149
11. Lyons I, Parsons LM, Hartley L, Li R Andrews JE, Robb L, Harvey JN (1995) Myogenic and morphogenetic defects in the heart tubes of murine embryos lacking the homeobox gene NKX2-5. Genes Dev 9:1654-1666
12. McElhinney D, Geiger E, Blinder J, Benson WD, Goldmuntz E (2003) NKX2-5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650-1655
13. Schott J, Benson W, Basson C, Pease W, Silberbach M, Moak J, Maron B, Seidman CE, Seidman JG (1998) Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281:108-111