We need a detailed phenome in the phenomenon of genetics and congenital heart disease

Journal of Medical Genetics

Volumn 45, Issue 5, 2008, Pages 320-

  Posch, M G ^a   Berger, F ^b   Perrot, A ^a   Ozcelik C ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b DEUTSCHES HERZZENTRUM BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; CONGENITAL HEART DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HEART DISEASE; HEART SEPTUM DEFECT; HEREDITY; HUMAN; LETTER; PRIORITY JOURNAL;

GATA4 TRANSCRIPTION FACTOR; GENOTYPE; HEART DEFECTS, CONGENITAL; HUMANS; MUTATION; PHENOTYPE;

EID: 43649088459     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.057117     Document Type: Letter

References (6)

1. 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.
2. Awad MM, Dalai D, Tichnell C, James C, Tucker A, Abraham T, Spevak PJ, Calkins H, Judge DP. Recessive arrhythmogenic right ventricular dysplasia due to novel cryptic splice mutation in PKP2. Hum Mutat 2006;27:1157.
3. Posch MG, Perrot A, Schmitt K, Mittelhaus S, Esenwein EM, Stiller B, Geier C, Dietz R, Gessner R, Ozcelik C, Berger F. Mutations in GATA4, NKX2.5, CRELD1 and BMP4 are infrequently found in patients with congenital cardiac septal defects. Am J Med Genet A 2008;146:251-3.
4. Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F. A novel mutation in the GATA4 gene in patients with tetralogy of Fallot. Hum Mutat 2006;27:293-4.
5. Schluterman MK, Krysiak AE, Kathiriya IS, Abate N, Chandalia M, Srivastava D, Garg V. Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. Am J Med Genet A 2007;143:817-23.
6. Hirayama-Yamada K, Kamisago M, Akimoto K, Aotsuka H, Nakamura Y, Tomita H, Furutani M, lmamura S, Takao A, Nakazawa M, Matsuoka R. Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect. Am J Med Genet A 2005;135:47-52.