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

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 patien...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wiley Subscription Services, Inc., A Wiley Company 2011
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386/
https://www.ncbi.nlm.nih.gov/pubmed/21608104
http://dx.doi.org/10.1002/bdra.20821
_version_ 1782213839792635904
author 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
author_facet 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
author_sort Solomon, Benjamin D
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3193386
institution National Center for Biotechnology Information
language English
publishDate 2011
publisher Wiley Subscription Services, Inc., A Wiley Company
record_format MEDLINE/PubMed
spelling pubmed-31933862011-10-19 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 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 Birth Defects Res A Clin Mol Teratol Case Report 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. Wiley Subscription Services, Inc., A Wiley Company 2011-09 /pmc/articles/PMC3193386/ /pubmed/21608104 http://dx.doi.org/10.1002/bdra.20821 Text en Copyright © 2011 Wiley-Liss, Inc., A Wiley Company http://creativecommons.org/licenses/by/2.5/ Re-use of this article is permitted in accordance with the Creative Commons Deed, Attribution 2.5, which does not permit commercial exploitation.
spellingShingle Case Report
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
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
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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3193386/
https://www.ncbi.nlm.nih.gov/pubmed/21608104
http://dx.doi.org/10.1002/bdra.20821
work_keys_str_mv AT solomonbenjamind denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT pinedaalvarezdaniele denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT hadleydonaldw denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT keatonameliaa denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT agochukwunneamakab denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT raammanus denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT carlsondonohoehannahe denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT kamataparna denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene
AT chandrasekharappasettarac denovodeletionofchromosome20q1333inapatientwithtracheoesophagealfistulacardiacdefectsandgenitourinaryanomaliesimplicatesgtpbp5asacandidategene

Ejemplares similares