How to Cite this Article: Guimiot F, Dupont C, Fuentes-Duarte A, Aboura A, Bazin A, Khung-Savatovsky S, Tillous-Borde I, Delezoide A-L, Azancot A. 2012. Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis. Am J Med Genet Part A 161A:208–213.
Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis†
Article first published online: 14 DEC 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 1, pages 208–213, January 2013
How to Cite
Guimiot, F., Dupont, C., Fuentes-Duarte, A., Aboura, A., Bazin, A., Khung-Savatovsky, S., Tillous-Borde, I., Delezoide, A.-L. and Azancot, A. (2013), Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis. Am. J. Med. Genet., 161: 208–213. doi: 10.1002/ajmg.a.35690
- Issue published online: 22 DEC 2012
- Article first published online: 14 DEC 2012
- Manuscript Accepted: 6 SEP 2012
- Manuscript Received: 22 FEB 2012
- GATA4 gene;
- interstitial deletion;
- maternal transmission;
- prenatal diagnosis;
- interrupted aortic arch type A;
- inlet ventricular septal defect;
- ostium secundum atrial septal defect;
- straddling of the tricuspid valve;
- complete atrioventricular septal defect;
- array comparative genomic hybridization
We report on the first prenatally diagnosed interstitial 8p23.1 maternally inherited deletion. At 20 weeks of gestation (WG) the fetus was diagnosed with a complete atrioventricular canal. In infancy, the mother underwent a two-step cardiac surgery for an interrupted aortic arch type A associated to an inlet ventricular septal defect (VSD). A straddling of the tricuspid valve type B was confirmed during surgery. The outcome showed no cardiac failure or conduction anomalies. However, she presented with moderate intellectual disability. Classical and molecular cytogenetic studies on amniotic and maternal lymphocytes cells showed a nearly identical interstitial deletion of the 8p23.1 region encompassing the GATA4 gene locus (Mother: nt 6,913,337–12,580,828, fetus: nt 7,074,449–12,580,828) with no modification of the telomeric region. The relevance of our report is not only the maternal syndromic interstitial 8p23.1 deletion, but also maternal transmission which has never been reported before. The maternal and fetal phenotypes were not identical, however, even though they had the same cellular and molecular background: an alteration of the epithelial mesenchymal transition of the atrioventricular valvulo-septal complex where GATA4 plays a positive role in the regulation. We reviewed all cases of interstitial 8p23.1 deletions diagnosed either prenatally or postnatally. © 2012 Wiley Periodicals, Inc.