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

Abstract

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.

Figure 1

De novo 0.7 Mb deletion of chromosome 20q13.33 in the patient described here, ascertained with Illumina Omni1-Quad high-density single-nucleotide polymorphism (SNP) microarray platform, and visualized using GenomeStudio (v2009.2, www.Illumina.com) genotyping module. The deletion is indicated by the arrow; the corresponding chromosomal region is outlined in the ideogram below. The proband's microarray is uppermost; parental arrays of the same region are shown below the proband's. [Color figure can be viewed in the online issue, which is available at wileyonlinelibrary.com.]