DOI: 10.1161/01.cir.102.4.432. Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects

10.1161/01.cir.102.4.432

Crossref journal-article

Ovid Technologies (Wolters Kluwer Health)

Circulation (276)

Abstract

Background —Cytogenetic evidence suggests that the haploinsufficiency of ≥1 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect–critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs. Methods and Results —We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at ≈10 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at ≈10 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion. Conclusions —Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.

Bibliography

Giglio, S., Graw, S. L., Gimelli, G., Pirola, B., Varone, P., Voullaire, L., Lerzo, F., Rossi, E., Dellavecchia, C., Bonaglia, M. C., Digilio, M. C., Giannotti, A., Marino, B., Carrozzo, R., Korenberg, J. R., Danesino, C., Sujansky, E., Dallapiccola, B., & Zuffardi, O. (2000). Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects. Circulation, 102(4), 432â437.

Authors 19

Sabrina Giglio (first)
Sharon L. Graw (additional)
Giorgio Gimelli (additional)
Barbara Pirola (additional)
Paolo Varone (additional)
Lucille Voullaire (additional)
Franco Lerzo (additional)
Elena Rossi (additional)
Claudia Dellavecchia (additional)
Maria Clara Bonaglia (additional)
Maria Cristina Digilio (additional)
Aldo Giannotti (additional)
Bruno Marino (additional)
Romeo Carrozzo (additional)
Julie R. Korenberg (additional)
Cesare Danesino (additional)
Eva Sujansky (additional)
Bruno Dallapiccola (additional)
Orsetta Zuffardi (additional)

References 21 Referenced 69

10.1111/j.1399-0004.1998.tb03685.x
10.1016/S0140-6736(97)06486-6
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10.1038/43900
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. / Genet (1992)
Digilio MC, Giannotti A, Marino B, et al. Atrioventricular canal and 8p-syndrome. Am J Med Genet. 1993;47:437–438. / Genet (1993)
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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. / Am J Hum Genet (1996)
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. / Genomics (1998)
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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. (10.1128/MCB.15.8.4095)
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Dates

Type	When
Created	13 years, 2 months ago (June 11, 2012, 8:42 p.m.)
Deposited	1 year, 3 months ago (May 12, 2024, 9:11 a.m.)
Indexed	3 months ago (June 3, 2025, 3:04 p.m.)
Issued	25 years, 1 month ago (July 25, 2000)
Published	25 years, 1 month ago (July 25, 2000)
Published Print	25 years, 1 month ago (July 25, 2000)

Funders 0

None

BibTeX

@article{Giglio_2000, title={Deletion of a 5-cM Region at Chromosome 8p23 Is Associated With a Spectrum of Congenital Heart Defects}, volume={102}, ISSN={1524-4539}, url={http://dx.doi.org/10.1161/01.cir.102.4.432}, DOI={10.1161/01.cir.102.4.432}, number={4}, journal={Circulation}, publisher={Ovid Technologies (Wolters Kluwer Health)}, author={Giglio, Sabrina and Graw, Sharon L. and Gimelli, Giorgio and Pirola, Barbara and Varone, Paolo and Voullaire, Lucille and Lerzo, Franco and Rossi, Elena and Dellavecchia, Claudia and Bonaglia, Maria Clara and Digilio, Maria Cristina and Giannotti, Aldo and Marino, Bruno and Carrozzo, Romeo and Korenberg, Julie R. and Danesino, Cesare and Sujansky, Eva and Dallapiccola, Bruno and Zuffardi, Orsetta}, year={2000}, month=jul, pages={432–437} }

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  "abstract": "<jats:p>\n            <jats:italic>Background</jats:italic>\n            \u2014Cytogenetic evidence suggests that the haploinsufficiency of \u22651 gene located in 8p23 behaves as a dominant mutation, impairing heart differentiation and leading to a wide spectrum of congenital heart defects (CHDs), including conotruncal lesions, atrial septal defects, atrioventricular canal defects, and pulmonary valve stenosis. An 8p heart-defect\u2013critical region was delineated, and the zinc finger transcription factor GATA4 was considered a likely candidate for these defects. We narrowed this region and excluded a major role of GATA4 in these CHDs.\n          </jats:p>\n          <jats:p>\n            <jats:italic>Methods and Results</jats:italic>\n            \u2014We studied 12 patients (7 had CHD and 5 did not) with distal 8p deletions from 9 families by defining their chromosome rearrangements at the molecular level by fluorescent in situ hybridization and short-tandem repeat analysis. Subjects with 8p deletions distal to D8S1706, at \u224810 cM from the 8p telomere, did not have CHD, whereas subjects with a deletion that included the more proximal region suffered from the spectrum of heart defects reported in patients with 8p distal deletions. The 5-cM critical region is flanked distally by D8S1706 and WI-8327, both at \u224810 cM, and proximally by D8S1825, at 15 cM. Neither GATA4 nor angiopoietin-2 (ANGPT2; a gene in 8p23 involved in blood vessel formation) were found to be deleted in some of the critical patients. We also found that CHDs are not related to the parental origin of deletion.\n          </jats:p>\n          <jats:p>\n            <jats:italic>Conclusions</jats:italic>\n            \u2014Haploinsufficiency for a gene between WI-8327 and D8S1825 is critical for heart development. A causal relationship does not seem to exist between GATA4 and ANGPT2 haploinsufficiency and CHDs.\n          </jats:p>",
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