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
; 91(9): 862-5, 2011 Sep.
Article
em En
| MEDLINE
| ID: mdl-21608104
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Sistema Urinário
/
Cromossomos Humanos Par 20
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Deleção Cromossômica
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Fístula Traqueoesofágica
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Proteínas Monoméricas de Ligação ao GTP
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Genitália Masculina
/
Cardiopatias Congênitas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article