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

被引：23

作者：

Solomon, Benjamin D. ^{[1
]}

Pineda-Alvarez, Daniel E. ^{[1
]}

Hadley, Donald W. ^{[2
]}

Keaton, Amelia A. ^{[1
,3
]}

Agochukwu, Nneamaka B. ^{[1
]}

Raam, Manu S. ^{[1
,3
]}

Carlson-Donohoe, Hannah E. ^{[1
]}

Kamat, Aparna ^{[4
]}

Chandrasekharappa, Settara C. ^{[4
]}

机构：

[1] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA

[2] NHGRI, Social & Behav Res Branch, NIH, Bethesda, MD 20892 USA

[3] Howard Hughes Med Inst, HHMI NIH Res Scholars Program, Chevy Chase, MD USA

[4] NHGRI, Canc Genet Branch, NIH, Bethesda, MD 20892 USA

来源：

BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY | 2011年 / 91卷 / 09期

基金：

美国国家卫生研究院;

关键词：

tracheo-esophageal fistula; TE fistula; VACTERL association; 20q13.33; deletion; GTPBP5; RESPIRATORY-CHAIN DEFICIENCY; COPY-NUMBER VARIATION; VACTERL ASSOCIATION; ESOPHAGEAL ATRESIA; LAMININ ALPHA-5; GENOME;

D O I：

10.1002/bdra.20821

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

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) 91:862-865, 2011. (C) 2011 Wiley-Liss, Inc.

引用

页码：862 / 865

页数：4

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