De novo deletion of chromosome 20q13.33 in a patient with tracheo‐esophageal fistula, cardiac defects and genitourinary anomalies implicates GTPBP5 as a candidate gene

• Published in: Birth defects research. A Clinical and molecular teratology Vol. 91; no. 9; pp. 862 - 865
• Main Authors: Solomon, Benjamin D., Pineda–Alvarez, Daniel E., Hadley, Donald W., Keaton, Amelia A., Agochukwu, Nneamaka B., Raam, Manu S., Carlson–Donohoe, Hannah E., Kamat, Aparna, Chandrasekharappa, Settara C.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.09.2011
• Subjects: 20q13.33 deletion; Chromosome Deletion; Chromosomes, Human, Pair 20 - genetics; Genitalia, Male - abnormalities; GTPBP5; Heart Defects, Congenital - genetics; Heart Defects, Congenital - pathology; Humans; Infant, Newborn; Male; Monomeric GTP-Binding Proteins - genetics; TE fistula; Tracheoesophageal Fistula - genetics; Tracheoesophageal Fistula - pathology; tracheo‐esophageal fistula; Urinary Tract - abnormalities; VACTERL association
• ISSN: 1542-0752; 1542-0760
• DOI: 10.1002/bdra.20821

BACKGROUND Tracheo‐esophageal fistula (TEF) with/or without esophageal atresia (EA) is a common congenital malformation that is often accompanied by other anomalies. The causes of this condition are thought to be heterogeneous but are overall not well understood. CASE REPORT We identified a patient with a TEF/EA, as well as cardiac and genitourinary anomalies, who was found to have a 0.7 Mb de novo deletion of chromosome 20q13.33. One gene within the deleted interval, GTPBP5, is of particular interest as a candidate gene. CONCLUSIONS GTPBP5 bears further study as a cause of TEF/EA accompanied by other malformations. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc.