Deletion of a 5-cM region at chromosome 8p23 is associated with a spectrum of congenital heart defects

Circulation

Volumn 102, Issue 4, 2000, Pages 432-437

  Giglio, Sabrina ^a   Graw, Sharon L ^b   Gimelli, Giorgio ^c   Pirola, Barbara ^a   Varone, Paolo ^c   Voullaire, Lucille ^d   Lerzo, Franco ^c   Rossi, Elena ^a   Dellavecchia, Claudia ^a   Bonaglia, Maria Clara ^e   Digilio, Maria Cristina ^f   Giannotti, Aldo ^f   Marino, Bruno ^f   Carrozzo, Romeo ^j   Korenberg, Julie R ^g   Danesino, Cesare ^a   Sujansky, Eva ^h   Dallapiccola, Bruno ⁱ   Zuffardi, Orsetta ^a,j,k  

^a UNIVERSITY OF PAVIA   (Italy)

^b UNIVERSITY OF DENVER   (United States)

^c G GASLINI INSTITUTE   (Italy)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e SCIENTIFIC INSTITUTE   (Italy)

^f BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^g CEDARS SINAI MEDICAL CENTER   (United States)

^h UNIVERSITY OF COLORADO   (United States)

ⁱ SAPIENZA UNIVERSITY OF ROME   (Italy)

^j SAN RAFFAELE HOSPITAL   (Italy)

^k Biologia Generale e Genetica Medica   (Italy)

more..

Author keywords

ANGPT2; Chromosomes, 8; GATA4; Gene deletion; Heart defects, congenital

Indexed keywords

TRANSCRIPTION FACTOR; ZINC FINGER PROTEIN;

ADULT; ARTICLE; CHILD; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CONGENITAL HEART MALFORMATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENE LOCATION; HAPLOTYPE; HEART ATRIUM SEPTUM DEFECT; HEART DEVELOPMENT; HUMAN; HUMAN CELL; INFANT; NEWBORN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PULMONARY VALVE STENOSIS; TANDEM REPEAT; TELOMERE;

EID: 0034713818     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/01.CIR.102.4.432     Document Type: Article

References (21)

1. Belmont JW. Recent progress in the molecular genetics of congenital heart defects. Clin Genet. 1998;54:11-19.
2. Burn J, Brennan P, Little J, et al. Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet. 1998;351:311-316.
3. Li QY, Newbury-Ecob RA, Terrett JA, et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet. 1997;15:21-29.
4. Curran ME, Atkinson DL, Ewart AK, et al. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993;73:159-168.
5. Linday EA, Botta A, Jurecic V, et al. Congenital heart disease in mice deficient for the diGeorge syndrome region. Nature. 1999;401: 379-383.
6. Marino B, Reale A, Giannotti A, et al. Nonrandom association of atrioventricular canal and del (8p) syndrome. Am J Med Genet. 1992;42:424-427.
7. Digilio MC, Giannotti A, Marino B, et al. Atrioventricular canal and 8p-syndrome. Am J Med Genet. 1993;47:437-438.
8. Hutchinson R, Wilson M, Voullaire L. Distal 8p deletion (8p23.1-8pter): a common deletion? J Med Genet. 1992;29:407-411.
9. Sujanski E, Smith ACM, Prescott KE, et al. Natural history of the "recombinant 8" syndrome. Am J Med Genet. 1993;47:512-525.
10. Wu BL, Schneider GH, Sabatino DE, et al. Distal 8p deletion (8)(p23): an easily missed chromosome abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet. 1996; 62:77-83.
11. Claeys I, Holvoet M, Eyskens B, et al. A recognisable behavioral phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Hum Genet. 1997;74:515-520.
12. Johnson MC, Hing A, Wood MK, et al. Chromosome abnormalities in congenital heart disease. Am J Med Genet. 1997;70:292-298.
13. Digilio MC, Marino B, Guccione P, et al. Deletion 8p syndrome. Am J Med Genet. 1998;75:534-536.
14. Devriendt K, Matthijs G, Van Dael R, et al. Delineation of the critical deletion region for congenital heart defects on chromosome 8p23.1. Am J Hum Genet. 1999;64:1119-1126.
15. Floridia G, Piantanida M, Minelli A, et al. The same molecular mechanism, in the maternal meiosis I, produces mono- and dicentric 8p duplications. Am J Hum Genet. 1996;58:785-796.
16. Cheung AH, Stewart RJ, Marsden PA. Endothelial Tie2/Tek ligands angiopoietin-1 (ANGPT1) and angiopoietin-2 (ANGPT2): regional localization of the human genes to 8q22.3 and 8p23. Genomics. 1998;98:389-391.
17. Johnson VP. Duplication of the distal part of the long arm of chromosome 1. Am J Med Genet. 1991;39:258-269.
18. Houlston RS, Renshaw RM, James RS, et al. Duplication 16q22-qter confirmed by fluorescence in situ hybridisation and molecular analysis. J Med Genet. 1994;31:884-887.
19. Gelb BD, Towbin JA, McCabe ERB, et al. San Luis Valley recombinant chromosome 8 and tetralogy of Fallet: a review of chromosome 8 anomalies and congenital heart disease. Am J Med Genet. 1991;40:471-476.
20. Grepin C, Robitaille L, Antakly T, et al. Inhibition of transcription factor GATA4 expression blocks in vitro cardiac muscle differentiation. Mol Cell Biol. 1 1995;5:4095-4102.
21. Pehlivan T, Pober BR, Brueckner M, et al. GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease. Am J Med Genet. 1999;83:201-206.