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• W2137424881 abstract "American Journal of Medical Genetics Part AVolume 139A, Issue 3 p. 236-238 Research Letter CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects Anna Sarkozy, Corresponding Author Anna Sarkozy [email protected] CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalyCSS—Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorGiorgia Esposito, Giorgia Esposito CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorEmanuela Conti, Emanuela Conti CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Division of Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorBruno Marino, Bruno Marino Section of Pediatric Cardiology, Department of Pediatrics, University “La Sapienza,” Rome, ItalySearch for more papers by this authorRaffaele Calabrò, Raffaele Calabrò Department of Cardiology, Second University of Naples, A.O. Monaldi, Naples, ItalySearch for more papers by this authorAntonio Pizzuti, Antonio Pizzuti CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this author Anna Sarkozy, Corresponding Author Anna Sarkozy a.s[email protected] CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalyCSS—Mendel Institute, Viale Regina Margherita 261, 00198 Rome, Italy.Search for more papers by this authorGiorgia Esposito, Giorgia Esposito CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorEmanuela Conti, Emanuela Conti CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorMaria Cristina Digilio, Maria Cristina Digilio Division of Medical Genetics, Bambino Gesù Hospital, IRCCS, Rome, ItalySearch for more papers by this authorBruno Marino, Bruno Marino Section of Pediatric Cardiology, Department of Pediatrics, University “La Sapienza,” Rome, ItalySearch for more papers by this authorRaffaele Calabrò, Raffaele Calabrò Department of Cardiology, Second University of Naples, A.O. Monaldi, Naples, ItalySearch for more papers by this authorAntonio Pizzuti, Antonio Pizzuti CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola CSS Hospital, IRCCS, San Giovanni Rotondo, Italy, and CSS- Mendel Institute, Rome, Italy Department of Experimental Medicine and Pathology, University “La Sapienza,” Rome, ItalySearch for more papers by this author First published: 08 November 2005 https://doi.org/10.1002/ajmg.a.31018Citations: 22Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Amati F, Mari A, Mingarelli R, Gennarelli M, Digilio MC, Giannotti A, Marino B, Novelli G, Dallapiccola B. 1995. Two pedigrees of autosomal dominant atrioventricular canal defect (AVCD): Exclusion from the critical region on 8p. Am J Med Genet 57: 483– 488. Crispino JD, Lodish MB, Thurberg BL, Litovsky SH, Collins T, Molkentin JD, Orkin SH. 2001. Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 15: 839– 844. Digilio MC, Marino B, Cicini MP, Giannotti A, Formigari R, Dallapiccola B. 1993. Risk of congenital heart defects in relatives of patients with atrioventricular canal. Am J Dis Child 147: 1295– 1297. Digilio MC, Marino B, Guccione P, Giannotti A, Mingarelli R, Dallapiccola B. 1998. Deletion 8p syndrome. Am J Med Genet 75: 534– 536. Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 1999. Atrioventricular canal defect without Down syndrome: A heterogeneous malformation. Am J Med Genet 85: 140– 146. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. 1997. Genetic and environmental risk factors of major cardiovascular malformations: The Baltimore-Washington Infant Study 1981–1989. Armonk, NY: Futura Publishing Co. pp 103– 122. 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 TBX5. Nature 424: 443– 447. Green EK, Priestley MD, Waters J, Maliszewska C, Latif F, Maher ER. 2000. Detailed mapping of a congenital heart disease gene in chromosome 3p25. J Med Genet 37: 581– 587. 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 Genet 135: 47– 52. Marino B, Vairo U, Corno A, Nava S, Guccione P, Calabròo R, Marcelletti C, Atrioventricular canal in Down syndrome. 1990. Prevalence of associated cardiac malformations compared with patients without Down syndrome. Am J Dis Child 144: 1120– 1122. Marino B, Reale A, Giannotti A, Digilio MC, Dallapiccola B. 1992. Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet 42: 424– 427. 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. Pehlivan T, Pober BR, Brueckner M, Garrett S, Slaugh R, Van Rheeden R, Wilson DB, Watson MS, Hing AV. 1999. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet 83: 201– 206. Pu WT, Ishiwata T, Juraszek AL, Ma Q, Izumo S. 2004. GATA4 is a dosage-sensitive regulator of cardiac morphogenesis. Dev Biol 275: 235– 244. Robinson SW, Morris CD, Goldmuntz E, Reller MD, Jones MA, Steiner RD, Maslen CL. 2003. Missense mutations in CRELD1 gene are associated with cardiac atrioventricular septal defects. Am J Hum Genet 72: 1047– 1052. Sarkozy A, Conti E, Neri C, D'Agostino R, Digilio MC, Esposito G, Toscano A, Marino B, Pizzuti A, Dallapiccola B. 2005. Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors. J Med Genet 42: e16. Sheffield VC, Pierpont ME, Nishimura D, Beck JS, Burns TL, Berg MA, Stone EM, Patil SR, Lauer RM. 1997. Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis. Hum Mol Genet 6: 117– 121. Svensson EC, Huggins GS, Lin H, Clendenin C, Jiang F, Tufts R, Dardik FB, Leiden JM. 2000. A syndrome of tricuspid atresia in mice with a targeted mutation of the gene encoding Fog-2. Nat Genet 25: 353– 356. Tevosian SG, Deconinck AE, Tanaka M, Schinke M, Litovsky SH, Izumo S, Fujiwara Y, Orkin SH. 2000. FOG-2, a cofactor for GATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell 101: 729– 739. Tomita-Mitchell A, McElhinney D, Maslen C, Garg V, Srivastava D, Goldmuntz E. 2004. GATA4 mutations in patients with congenital heart disease. American Society of Human Genetics Abstract N. 2155. Zatyka M, Priestley M, Ladusans EJ, Fryer AE, Mason J, Latif F, Maher ER. 2005. Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2). Clin Genet 67: 526– 528. Citing Literature Volume139A, Issue315 December 2005Pages 236-238 ReferencesRelatedInformation" @default.
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