Prenatal diagnosis of two fetuses with deletions of 8p23.1, critical region for congenital diaphragmatic hernia and heart defects. Issue 7 (21st May 2013)

• Record Type: Journal Article
• Authors: Keitges, Elisabeth A.; Pasion, Romela; Burnside, Rachel D.; Mason, Carla; Gonzalez‐Ruiz, Antonio; Dunn, Teresa; Masiello, Meredith; Gebbia, Joseph A.; Fernandez, Carlos O.; Risheg, Hiba
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1755
• Page End: 1758
• Publication Date: 2013-05-21
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35965
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="ajmga35965-sec-0001" sec-type="section"> <p>Microdeletions of 8p23.1 are mediated by low copy repeats and can cause congenital diaphragmatic hernia (CDH) and cardiac defects. Within this region, point mutations of the <italic>GATA4</italic> gene have been shown to cause cardiac defects. However, the cause of CDH in these deletions has been difficult to determine due to the paucity of mutations that result in CDH, the lack of smaller deletions to refine the region and the reduced penetrance of CDH in these large deletions. Mice deficient for one copy of the <italic>Gata4</italic> gene have been described with CDH and heart defects suggesting mutations in <italic>Gata4</italic> can cause the phenotype in mice. We report on the SNP microarray analysis on two fetuses with deletions of 8p23.1. The first had CDH and a ventricular septal defect (VSD) on ultrasonography and a family history of a maternal VSD. Microarray analysis detected a 127‐kb deletion which included the <italic>GATA4</italic> and <italic>NEIL2</italic> genes which was inherited from the mother. The second fetus had an incomplete atrioventricular canal defect on ultrasonography. Microarray analysis showed a 315‐kb deletion that included seven genes, <italic>GATA4</italic>, <italic>NEIL2</italic>, <italic>FDFT1</italic>, <italic>CTSB</italic>, <italic>DEFB136</italic>, <italic>DEFB135</italic>, and <italic>DEFB134</italic>. These results suggest that haploinsufficiency of the two genes in common within 8p23.1; <italic>GATA4</italic> and <italic>NEIL2</italic> can cause CDH and cardiac defects in humans. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>