Novel CRELD1 gene mutations in patients with atrioventricular septal defect

World Journal of Pediatrics

Volumn 6, Issue 4, 2010, Pages 348-352

  Guo, Ying ^a   Shen, Jie ^b   Yuan, Lang ^b   Li, Fen ^a   Wang, Jian ^a   Sun, Kun ^b,c  

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

^b SHANGHAI JIAO TONG UNIVERSITY   (China)

^c XINHUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

atrioventricular septal defect; CRELD1; Down syndrome

Indexed keywords

ALANINE; CELL ADHESION MOLECULE; CRELD1 PROTEIN; EPIDERMAL GROWTH FACTOR; GENOMIC DNA; GLUTAMIC ACID; LYSINE; PROLINE; UNCLASSIFIED DRUG;

ARTICLE; BLOOD SAMPLING; CALCIUM BINDING; CHILD; CONTROLLED STUDY; DOWN SYNDROME; FEMALE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SUSCEPTIBILITY; HEART VENTRICLE SEPTUM DEFECT; HUMAN; INFANT; LEUKOCYTE; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; SCHOOL CHILD;

CELL ADHESION MOLECULES; CHILD; CHILD, PRESCHOOL; EXTRACELLULAR MATRIX PROTEINS; FEMALE; HUMANS; INFANT; MALE; MITRAL VALVE INSUFFICIENCY; MUTATION;

EID: 78649674330     PISSN: 17088569     EISSN: None     Source Type: Journal    
DOI: 10.1007/s12519-010-0235-7     Document Type: Article

References (23)

1. Ferencz C, Loffredo CA, Rubin JD, Magee CA. Perspectives in pediatric cardiology. NY: Futura Publishing Company press, 1997.
2. V.C. Sheffield M.E. Pierpont D. Nishimura J.S. Beek T.L. Burns M.A. Berg, et al. 1997 Identification of a complex congenital heart defect susceptibility locus by using DNA pooling and shared segment analysis Hum Molec Genet 6 117 121 1:CAS:528:DyaK2sXlslCltw%3D%3D 10.1093/hmg/6.1.117 9002679 (Pubitemid 27033974)
3. E.K. Green M.D. Priestley J. Waters C. Maliszewska F. Latif E.R. Maher 2000 Detailed mapping of a congenital heart disease gene in chromosome 3p25 J Med Genet 37 581 587 1:CAS:528:DC%2BD3cXmtFOhtbw%3D 10.1136/jmg.37.8.581 10922384
4. P.A. Rupp G.T. Fouad C.A. Egelston C.A. Reifsteck S.B. Olson W.M. Knosp, et al. 2002 Identification, genomic organization and mRNA expression of CRELD1, the founding member of a unique family of matricellular proteins Gene 293 47 57 1:CAS:528:DC%2BD38XlsFyks7k%3D 10.1016/S0378-1119(02)00696-0 12137942 (Pubitemid 34876460)
5. Clark EB. Mechanisms in the pathogenesis of congenital heart defects. In: Pierpont ME, Moller J, eds. The Genetics of Cardiovascular Disease. Boston: Martinus-Nijoff, 1986: 3-11.
6. E.B. Clark 1996 Pathogenetic mechanism of congenital cardiovascular malformations revisited Semin Perinatal 20 465 472 1:STN:280: DyaK2s3ks1Wktw%3D%3D 10.1016/S0146-0005(96)80062-0 (Pubitemid 27146995)
7. B. Marino M.C. Digilio A. Toscano A. Giannotti B. Dallapiccola 1999 Congenital heart diseases in children with Noonan syndrome: an expanded cardiac spectrum with high prevalence of atrioventricular canal J Pediatric 135 703 706 1:STN:280:DC%2BD3c%2FlsVKisA%3D%3D 10.1016/S0022-3476(99)70088-0
8. Ferencz C, Loffredo CA, Correa-Villasenor A, Wilson PD. Genetic and Environmental Risk Factor of Major Cardiovascular Malformations. The Baltimore-Washington Infant Study 1981-1989. New York: Futura Publishing press, 1997.
9. B. Marino U. Vairo A. Corno S. Nava P. Guccione R. Calabrò, et al. 1990 Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome Am J Dis Child 144 1120 1122 1:STN:280:DyaK3czos1WgsQ%3D%3D 2144945 (Pubitemid 20320717)
10. R. Carmi J.A. Boughman C. Ferencz 1992 Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence Am J Med Genet 43 569 575 1:STN:280:DyaK383ps1ajtQ%3D%3D 10.1002/ajmg.1320430313 1534968
11. M.C. Digilio B. Marino A. Toscano A. Giannotti B. Dallapiccola 1999 Atrioventricular canal defect without Down syndrome: a heterogeneous malformation Am J Med Genet 85 140 146 1:STN:280:DyaK1Mzjtlehtw%3D%3D 10.1002/(SICI)1096-8628(19990716)85:2<140::AID-AJMG8>3.0.CO;2-A 10406667 (Pubitemid 29288339)
12. B. Marino 1989 Left-sided cardiac obstruction in patients with Down syndrome J Pediatr 115 834 835 1:STN:280:DyaK3c%2FjvFyktw%3D%3D 2530325
13. P. Francalanci B. Marino R. Boldrini R. Abella F. Iorio C. Bosman 1996 Morphology of the atrioventricular valve in asplenia syndrome: a peculiar type of atrioventricular canal defect Cardiovasc Pathol 5 145 151 10.1016/1054-8807(95)00117-4 (Pubitemid 26180685)
14. M.C. Digilio B. Marino A. Ammirati U. Borzaga A. Giannotti B. Dallapiccola 1999 Cardiac malformations in patients with oralfacial-skeletal syndromes: clinical similarities with heterotaxia Am J Med Genet 84 350 356 1:STN:280:DyaK1M3ntVCktw%3D%3D 10.1002/(SICI)1096-8628(19990604)84:4<350:: AID-AJMG8>3.0.CO;2-E 10340650 (Pubitemid 29211396)
15. A.J. Cousineau R.M. Lauer M.E. Pierpont T.L. Burns R.H. Ardinger S.R. Patil, et al. 1994 Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21 Hum Genet 93 103 108 1:CAS:528:DyaK2MXpvFCh 10.1007/BF00210591 8112730
16. L. Wilson A. Curtis J.R. Korenberg L. Allan G. Chenevix-Trench A. Stephenson, et al. 1993 A large, dominant pedigree of atrioventricular septal defect (AVSD)-exclusion from the Down syndrome critical region on chromosome 21 Am J Hum Genet 53 1262 1268 1:CAS:528:DyaK2cXisVWrsb8%3D 8250042
17. S.W. Robinson C.D. Morris E. Goldmuntz M.D. Reller M.A. Jones R.D. Steiner, et al. 2003 Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects Am J Hum Genet 72 1047 1052 1:CAS:528: DC%2BD3sXivFWgu7o%3D 10.1086/374319 12632326 (Pubitemid 36403325)
18. M. Zatyka M. Priestley E.J. Ladusans A.E. Fryer J. Mason F. Latif, et al. 2005 Analysis of CRELD1 as a candidate 3p25 atrioventicular septal defect locus (AVSD2) Clin Genet 67 526 528 1:STN:280:DC%2BD2M3it1KlsQ%3D%3D 10.1111/j.1399-0004.2005.00435.x 15857420 (Pubitemid 40637451)
19. A. Sarkozy G. Esposito E. Conti M.C. Digilio B. Marino R. Calabrò, et al. 2005 CRELD1 and GATA4 gene analysis in patients with nonsyndromic atrioventricular canal defects Am J Med Genet A 139 236 238 16278904
20. M.G. Posch A. Perrot K. Schmitt S. Mittelhaus E.M. Esenwein B. Stiller, et al. 2008 Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects Am J Med Genet 146A 251 253 1:CAS:528:DC%2BD1cXhvVCis7g%3D 10.1002/ajmg.a.32042 18076106
21. M.E. Pierpont R.R. Markwald A.E. Lin 2000 Genetic aspects of atrioventricular septal defects Am J Med Genet 97 289 296 1:STN:280: DC%2BD3M3ps1Chsw%3D%3D 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3. 0.CO;2-U 11376440 (Pubitemid 32463493)
22. C. Ferencz J.A. Boughman C.A. Neill J.I. Brenner L.W. Perry 1989 Congenital cardiovascular malformations: questions on inheritance Baltimore-Washington Infant Study Group. J Am Coll Cardiol 14 756 763 1:STN:280:DyaL1MzmtVaqtg%3D%3D
23. C.L. Maslen D. Babcock S.W. Robinson L.J. Bean K.J. Dooley V.L. Willour, et al. 2006 CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome Am J Med Genet A 140 2501 2505 17036335