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

Birth Defects Res A Clin Mol Teratol. 2011 Sep;91(9):862-5. doi: 10.1002/bdra.20821. Epub 2011 May 23.

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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural

MeSH terms

  • Chromosome Deletion*
  • Chromosomes, Human, Pair 20 / genetics*
  • Genitalia, Male / abnormalities*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Monomeric GTP-Binding Proteins / genetics*
  • Tracheoesophageal Fistula / genetics*
  • Tracheoesophageal Fistula / pathology
  • Urinary Tract / abnormalities*

Substances

  • MTG2 protein, human
  • Monomeric GTP-Binding Proteins