Novel NKX2-5 mutations in patients with familial atrial septal defects

Pediatric Cardiology

Volumn 32, Issue 2, 2011, Pages 193-201

  Liu, Xing Yuan ^a   Wang, Juan ^a   Yang, Yi Qing ^d   Zhang, Yang Yang ^b   Chen, Xiao Zhong ^c   Zhang, Wei ^c   Wang, Xiao Zhou ^c   Zheng, Jing Hao ^c   Chen, Yi Han ^a  

^a TONGJI UNIVERSITY SCHOOL OF MEDICINE   (China)

^b THE FIRST AFFILIATED HOSPITAL OF NANJING MEDICAL UNIVERSITY   (China)

^c SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^d NONE

Author keywords

Atrial septal defect; Genetics; Transcription factor

Indexed keywords

TRANSCRIPTION FACTOR NKX2.5;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENE SEGREGATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HEART ATRIUM SEPTUM DEFECT; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; SEQUENCE ANALYSIS;

ADOLESCENT; CASE-CONTROL STUDIES; CHILD; CHILD, PRESCHOOL; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HOMEODOMAIN PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PEDIGREE; PHENOTYPE; RISK FACTORS; TRANSCRIPTION FACTORS;

EID: 79952313576     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-010-9859-6     Document Type: Article

References (41)

1. H Akazawa I Komuro 2005 Cardiac transcription factor Csx/NKX2-5: its role in cardiac development and diseases Pharmacol Ther 107 252 268 1:CAS:528:DC%2BD2MXlvVWgtb8%3D 10.1016/j.pharmthera.2005.03.005 15925411 (Pubitemid 40910044)
2. MI Akcaboy FB Cengiz B Inceoglu T Ucar S Atalay E Tutar M Tekin 2008 The effect of p.Arg25Cys alteration in NKX2-5 on conotruncal heart anomalies: mutation or polymorphism? Pediatr Cardiol 29 126 129 1:STN:280: DC%2BD1c%2FkslemtA%3D%3D 10.1007/s00246-007-9058-2 17891434
3. H Bartlett GJ Veenstra DL Weeks 2010 Examining the cardiac NK-2 genes in early heart development Pediatr Cardiol 31 335 341 10.1007/s00246-009-9605-0 19967350
4. DW Benson GM Silberbach A Kavanaugh-McHugh C Cottrill Y Zhang S Riggs O Smalls MC Johnson MS Watson JG Seidman CE Seidman J Plowden JD Kugler 1999 Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways J Clin Invest 104 1567 1573 1:CAS:528:DyaK1MXnvF2ntLo%3D 10.1172/JCI8154 10587520 (Pubitemid 30002368)
5. MW Chen YS Pang Y Guo JH Pan BL Liu J Shen TW Liu 2010 GATA4 mutations in Chinese patients with congenital cardiac septal defects Pediatr Cardiol 31 85 89 10.1007/s00246-009-9576-1 19915893
6. YH Ching TK Ghosh SJ Cross EA Packham L Honeyman S Loughna TE Robinson AM Dearlove G Ribas AJ Bonser NR Thomas AJ Scotter LS Caves GP Tyrrell RA Newbury-Ecob A Munnich D Bonnet JD Brook 2005 Mutation in myosin heavy chain 6 causes atrial septal defect Nat Genet 37 423 428 1:CAS:528:DC%2BD2MXislCmtb0%3D 10.1038/ng1526 15735645
7. DA Elliott EP Kirk T Yeoh S Chandar F McKenzie P Taylor P Grossfeld D Fatkin O Jones P Hayes M Feneley RP Harvey 2003 Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome J Am Coll Cardiol 41 2072 2076 1:CAS:528:DC%2BD3sXltFGjs7c%3D 10.1016/S0735-1097(03)00420-0 12798584 (Pubitemid 36677134)
8. G Esposito G Grutter F Drago MW Costa A De Santis G Bosco B Marino E Bellacchio F Lepri RP Harvey A Sarkozy B Dallapiccola 2009 Molecular analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection Am J Med Genet A 149A 1574 1577 1:CAS:528: DC%2BD1MXpsVejtbo%3D 10.1002/ajmg.a.32907 19533775
9. V Garg IS Kathiriya R Barnes MK Schluterman IN King CA Butler CR Rothrock RS Eapen K Hirayama-Yamada K Joo R Matsuoka JC Cohen D Srivastava 2003 GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 424 443 447 1:CAS:528:DC%2BD3sXls1aqtrw%3D 10.1038/nature01827 12845333 (Pubitemid 36917494)
10. L Gioli-Pereira AC Pereira SM Mesquita J Xavier-Neto AA Lopes JE Krieger 2010 NKX2.5 mutations in patients with nonsyndromic congenital heart disease Int J Cardiol 138 261 265 10.1016/j.ijcard.2008.08.035 19073351
11. H Hamanoue SE Rahayuningsih Y Hirahara J Itoh U Yokoyama T Mizuguchi H Saitsu N Miyake F Hirahara N Matsumoto 2009 Genetic screening of 104 patients with congenitally malformed hearts revealed a fresh mutation of GATA4 in those with atrial septal defects Cardiol Young 19 482 485 10.1017/S1047951109990813 19678963
12. MW Hentze AE Kulozik 1999 A perfect message: RNA surveillance and nonsense-mediated decay Cell 96 307 310 1:CAS:528:DyaK1MXht1eqsrs%3D 10.1016/S0092-8674(00)80542-5 10025395 (Pubitemid 29077583)
13. K Hirayama-Yamada M Kamisago K Akimoto H Aotsuka Y Nakamura H Tomita M Furutani S Imamura A Takao M Nakazawa R Matsuoka 2005 Phenotypes with GATA4 or NKX2.5 mutations in familial atrial septal defect Am J Med Genet A 135 47 52 15810002 (Pubitemid 40627663)
14. CA Hobbs MA Cleves C Keith S Ghaffar SJ James 2005 NKX2.5 and congenital heart defects: a population-based study Am J Med Genet A 134 223 225 (Pubitemid 40446223)
15. T Hosoda I Komuro I Shiojima Y Hiroi M Harada Y Murakawa Y Hirata Y Yazaki 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 J 63 425 426 1:STN:280: DC%2BD3cvhsValtQ%3D%3D 10.1253/jcj.63.425 10943630 (Pubitemid 29252256)
16. Y Ikeda Y Hiroi T Hosoda T Utsunomiya S Matsuo T Ito J Inoue T Sumiyoshi H Takano R Nagai I Komuro 2002 Novel point mutation in the cardiac transcription factor CSX/NKX2.5 associated with congenital heart disease Circ J 66 561 563 1:CAS:528:DC%2BD38XkvFShs78%3D 10.1253/circj.66.561 12074273 (Pubitemid 34733496)
17. A Inga SM Reamon-Buettner J Borlak MA Resnick 2005 Functional dissection of sequence-specific NKX2-5 DNA binding domain mutations associated with human heart septation defects using a yeast-based system Hum Mol Genet 14 1965 1975 1:CAS:528:DC%2BD2MXlslyjs74%3D 10.1093/hmg/ddi202 15917268 (Pubitemid 41418033)
18. JP Jacobs JA Quintessenza RP Burke C Mavroudis 2000 Congenital Heart Surgery Nomenclature and Database Project: atrial septal defect Ann Thorac Surg 69 S18 S24 1:STN:280:DC%2BD3c3ls1aksg%3D%3D 10.1016/S0003-4975(99)01233-3 10798412
19. KJ Jenkins A Correa JA Feinstein L Botto AE Britt SR Daniels M Elixson CA Warnes CL Webb American Heart Association Council on Cardiovascular Disease in the Young 2007 Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics Circulation 115 2995 3014 10.1161/CIRCULATIONAHA.106.183216 17519397 (Pubitemid 46912106)
20. H Kasahara DW Benson 2004 Biochemical analyses of eight NKX2.5 homeodomain missense mutations causing atrioventricular block and cardiac anomalies Cardiovasc Res 64 40 51 1:CAS:528:DC%2BD2cXnsFGltLc%3D 10.1016/j.cardiores.2004.06.004 15364612 (Pubitemid 39208921)
21. H Kasahara B Lee JJ Schott DW Benson JG Seidman CE Seidman S Izumo 2000 Loss of function and inhibitory effects of human CSX/NKX2.5 homeoprotein mutations associated with congenital heart disease J Clin Invest 106 299 308 1:CAS:528:DC%2BD3cXkvFWgs70%3D 10.1172/JCI9860 10903346 (Pubitemid 30483134)
22. QY Li RA Newbury-Ecob JA Terrett DI Wilson AR Curtis CH Yi T Gebuhr PJ Bullen SC Robson T Strachan D Bonnet S Lyonnet ID Young JA Raeburn AJ Buckler DJ Law JD Brook 1997 Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family Nat Genet 15 21 29 10.1038/ng0197-21 8988164 (Pubitemid 27014945)
23. X Lin Z Huo X Liu Y Zhang L Li H Zhao B Yan Y Liu Y Yang YH Chen 2010 A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect J Hum Genet 55 662 667 1:CAS:528:DC%2BC3cXhtlaitb3I 10.1038/jhg.2010.84 20631719
24. D Lloyd-Jones R Adams M Carnethon G De Simone TB Ferguson K Flegal E Ford K Furie A Go K Greenlund N Haase S Hailpern M Ho V Howard B Kissela S Kittner D Lackland L Lisabeth A Marelli M McDermott J Meigs D Mozaffarian G Nichol C O'Donnell V Roger W Rosamond R Sacco P Sorlie R Stafford J Steinberger T Thom S Wasserthiel-Smoller N Wong J Wylie-Rosett Y Hong American Heart Association Statistics Committee and Stroke Statistics Subcommittee 2009 Heart disease and stroke statistics-2009 update: a report from the American Heart Association Statistics Committee and Stroke Statistics Subcommittee Circulation 119 e21 e181 10.1161/CIRCULATIONAHA.108.191261 19075105
25. AJ Marelli AS Mackie R Ionescu-Ittu E Rahme L Pilote 2007 Congenital heart disease in the general population: changing prevalence and age distribution Circulation 115 163 172 10.1161/CIRCULATIONAHA.106.627224 17210844 (Pubitemid 46105714)
26. H Matsson J Eason CS Bookwalter J Klar P Gustavsson J Sunnegårdh H Enell A Jonzon M Vikkula I Gutierrez J Granados-Riveron M Pope F Bu'Lock J Cox TE Robinson F Song DJ Brook S Marston KM Trybus N Dahl 2008 Alpha-cardiac actin mutations produce atrial septal defects Hum Mol Genet 17 256 265 1:CAS:528:DC%2BD1cXisVWjtg%3D%3D 10.1093/hmg/ddm302 17947298
27. DB McElhinney E Geiger J Blinder BD Woodrow E Goldmuntz 2003 NKX2.5 mutations in patients with congenital heart disease J Am Coll Cardiol 42 1650 1655 1:CAS:528:DC%2BD3sXpsVCqu70%3D 10.1016/j.jacc.2003.05.004 14607454 (Pubitemid 37378448)
28. K Monzen W Zhu H Kasai Y Hiroi T Hosoda H Akazawa Y Zou D Hayashi T Yamazaki R Nagai I Komuro 2002 Dual effects of the homeobox transcription factor Csx/NKX2-5 on cardiomyocytes Biochem Biophys Res Commun 298 493 500 1:CAS:528:DC%2BD38XotFSns7c%3D 10.1016/S0006-291X(02)02497-X 12408979 (Pubitemid 35333685)
29. M Pashmforoush JT Lu H Chen TS Amand R Kondo S Pradervand SM Evans B Clark JR Feramisco W Giles SY Ho DW Benson M Silberbach W Shou KR Chien 2004 NKX2-5 pathways and congenital heart disease: loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block Cell 117 373 386 1:CAS:528:DC%2BD2cXjvFemtr0%3D 10.1016/S0092-8674(04) 00405-2 15109497 (Pubitemid 38534543)
30. ME Pierpont CT Basson DW Benson Jr BD Gelb TM Giglia E Goldmuntz G McGee CA Sable D Srivastava CL Webb American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young 2007 Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics Circulation 115 3015 3038 10.1161/CIRCULATIONAHA.106.183056 17519398 (Pubitemid 46912107)
31. MG Posch A Perrot K Schmitt S Mittelhaus EM Esenwein B Stiller C Geier R Dietz R Gessner C Ozcelik F Berger 2008 Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects Am J Med Genet A 146 251 253
32. OW Prall MK Menon MJ Solloway Y Watanabe S Zaffran F Bajolle C Biben JJ McBride BR Robertson H Chaulet FA Stennard N Wise D Schaft O Wolstein MB Furtado H Shiratori KR Chien H Hamada BL Black Y Saga EJ Robertson ME Buckingham RP Harvey 2007 An NKX2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation Cell 128 947 959 1:CAS:528: DC%2BD2sXjvVSnsr4%3D 10.1016/j.cell.2007.01.042 17350578 (Pubitemid 46341418)
33. SM Reamon-Buettner J Borlak 2004 Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease J Med Genet 41 684 690 1:CAS:528:DC%2BD2cXovFWhsbs%3D 10.1136/jmg.2003.017483 15342699 (Pubitemid 39208609)
34. SM Reamon-Buettner J Borlak 2010 NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD) Hum Mutat 31 1185 1194 1:CAS:528:DC%2BC3cXhsFSlt7rO 10.1002/humu.21345 20725931
35. A Sarkozy E Conti C Neri R D'Agostino MC Digilio G Esposito A Toscano B Marino A Pizzuti B Dallapiccola 2005 Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors J Med Genet 42 e16 1:STN:280:DC%2BD2M%2FmtFaltQ%3D%3D 10.1136/jmg.2004.026740 15689439
36. JJ Schott DW Benson CT Basson W Pease GM Silberbach JP Moak BJ Maron CE Seidman JG Seidman 1998 Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 108 111 1:CAS:528:DyaK1cXksVOmtro%3D 10.1126/science.281.5373.108 9651244 (Pubitemid 28354055)
37. RJ Sommer ZM Hijazi JF Rhodes Jr 2008 Pathophysiology of congenital heart disease in the adult: part I: shunt lesions Circulation 117 1090 1099 10.1161/CIRCULATIONAHA.107.714402 18299514
38. B Stallmeyer H Fenge U Nowak-Göttl E Schulze-Bahr 2010 Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease Clin Genet 78 533 540 1:CAS:528:DC%2BC3cXhs1Wku7bF 10.1111/j.1399-0004.2010.01422.x 20456451
39. W Zhang X Li A Shen W Jiao X Guan Z Li 2009 Screening NXK2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases Genet Test Mol Biomarkers 13 159 162 1:CAS:528:DC%2BD1MXmtVSnsL8%3D 10.1089/gtmb.2008.0044 19371212
40. WM Zhang XF Li ZY Ma J Zhang SH Zhou T Li L Shi ZZ Li 2009 GATA4 and NKX2.5 gene analysis in Chinese Uygur patients with congenital heart disease Chin Med J Engl 122 416 419 1:CAS:528:DC%2BD1MXjslOisLc%3D 19302747
41. W Zhu I Shiojima Y Hiroi Y Zou H Akazawa M Mizukami H Toko Y Yazaki R Nagai I Komuro 2000 Functional analyses of three Csx/Nkx-2.5 mutations that cause human congenital heart disease J Biol Chem 275 35291 35296 1:CAS:528:DC%2BD3cXotFeitLg%3D 10.1074/jbc.M000525200 10948187