title: 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.
  
  
  METHODS
  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.
authors: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@mail.nih.gov
authors: Benjamin D
authors: BD
authors: Solomon
authors: Daniel E
authors: DE
authors: Pineda-Alvarez
authors: Donald W
authors: DW
authors: Hadley
authors: Amelia A
authors: AA
authors: Keaton
authors: Nneamaka B
authors: NB
authors: Agochukwu
authors: Manu S
authors: MS
authors: Raam
authors: Hannah E
authors: HE
authors: Carlson-Donohoe
authors: Aparna
authors: A
authors: Kamat
authors: Settara C
authors: SC
authors: Chandrasekharappa
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