Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects [3]

American Journal of Medical Genetics, Part A

Volumn 146, Issue 2, 2008, Pages 251-253

  Posch, Maximilian G ^a   Perrot, Andreas ^a   Schmitt, Katharina ^b   Mittelhaus, Sebastian ^a   Esenwein, Eva Maria ^b   Stiller, Brigitte ^b   Geier, Christian ^a   Dietz, Rainer ^a   Geßner, Reinhard ^a   Özcelik, Cemil ^a   Berger, Felix ^a,b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b DEUTSCHES HERZZENTRUM BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AORTA COARCTATION; AUTOSOMAL DOMINANT INHERITANCE; BMP4 GENE; CRELD1 GENE; FEMALE; GATA4 GENE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HEART SEPTUM DEFECT; HUMAN; LETTER; MAJOR CLINICAL STUDY; NKX2.5 GENE; NUCLEOTIDE SEQUENCE; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM; TRANSCRIPTION INITIATION;

BONE MORPHOGENETIC PROTEINS; CELL ADHESION MOLECULES; EXTRACELLULAR MATRIX PROTEINS; GATA4 TRANSCRIPTION FACTOR; HEART SEPTAL DEFECTS; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; MUTATION; TRANSCRIPTION FACTORS; VARIATION (GENETICS);

EID: 37849053289     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32042     Document Type: Letter

References (11)

1. Burn J, Brennan P, Little J, Holloway S, Coffey R, Somerville J, Dennis NR, Allan L, Arnold R, Deanfield JE, Godman M, Houston A, Keeton B, Oakley C, Scott O, Silove E, Wilkinson J, Pembrey M, Hunter AS. 1998. Recurrence risks in offspring of adults with major heart defects: Results from first cohort of British collaborative study. Lancet 351:311-316.
2. Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D. 2003. GATA4 mutations cause human congenital heart defects and reveal an interaction with T BX5. Nature 424:443-447.
3. 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 N KX2.5 mutations in familial atrial septal defect. Am J Med Genet Part A 135A:47-52.
4. Jiao K, Kulessa H, Tompkins K, Zhou Y, Batts L, Baldwin HS, Hogan BL. 2003. An essential role of Bmp4 in the atrioventricular septation of the mouse heart. Genes Dev 17:2362-2367.
5. McElhinney DB, Geiger E, Blinder J, Benson DW, Goldmuntz E. 2003. N KX2.5 mutations in patients with congenital heart disease. J Am Coll Cardiol 42:1650-1655.
6. Molkentin JD, Lin Q, Duncan SA, Olson EN. 1997. Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis. Genes Dev 11:1061-1072.
7. Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F. 2006. A novel mutation in the GATA4 gene in patients with Tetralogy of Fallot. Hum Mutat 27:293-294.
8. Okubo A, Miyoshi O, Baba K, Takagi M, Tsukamoto K, Kinoshita A, Yoshiura K, Kishino T, Ohta T, Niikawa N, Matsumoto N. 2004. A novel GATA4 mutation completely segregated with atrial septal defect in a large Japanese family. J Med Genet 41:e97.
9. Ozcelik C, Bit-Avragim N, Panek A, Gaio U, Geier C, Lange PE, Dietz R, Posch MG, Perrot A, Stiller B. 2006. Mutations in the EGF-CFC gene cryptic are an infrequent cause of congenital heart disease. Pediatr Cardiol 27:695-698.
10. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. 2003. Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72:1047-1052.
11. Schott JJ, Benson DW, Basson CT, Silberbach W, Moak JP, Maron BJ, Seidman CE, Seidman JG. 1998. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science 281:108-111.