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 |
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| 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 |
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| Institution: | Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA. solomonb@mail.nih.gov |
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| 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. Birth Defects Research (Part A) 2011. © 2011 Wiley‐Liss, Inc. |
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| Keywords: | tracheo‐esophageal fistula TE fistula VACTERL association 20q13 33 deletion GTPBP5 |
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