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
✍ Scribed by Benjamin D. Solomon; Daniel E. Pineda–Alvarez; Donald W. Hadley; Amelia A. Keaton; Nneamaka B. Agochukwu; Manu S. Raam; Hannah E. Carlson–Donohoe; Aparna Kamat; Settara C. Chandrasekharappa
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 142 KB
- Volume
- 91
- Category
- Article
- ISSN
- 1542-0752
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✦ Synopsis
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.