Denys-Drash syndrome and congenital diaphragmatic hernia:: Another case with the 1097G > A(Arg366His) mutation

被引：34

作者：

Antonius, Timothy ^{[1
]}

van Bon, Bregje ^{[2
]}

Eggink, Alex ^{[3
]}

van der Burgt, Ineke ^{[2
]}

Noordam, Kees ^{[1
]}

van Heijst, Arno ^{[1
]}

机构：

[1] Univ Nijmegen St Radboud Hosp, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[2] Univ Nijmegen St Radboud Hosp, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[3] Univ Nijmegen St Radboud Hosp, Med Ctr, Dept Obstet & Gynecol, NL-6500 HB Nijmegen, Netherlands

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2008年 / 146A卷 / 04期

关键词：

Denys-Drash syndrome; congenital diaphragmatic hernia; WTI; chromosome; 11p13; Arg366his;

D O I：

10.1002/ajmg.a.32168

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital diaphragmatic hernia (CDH) is a disorder of the development of the lung and diaphragm and is associated with pulmonary hypoplasia and pulmonary hypertension. Denys-Drash syndrome (DDS) is a well-known syndrome caused by several different germline mutations in the WT1-gene. CDH in DDS is rare. We present the third case of CDH with clinical features of DDS and the same, rare Arg366His mutation in the WT1-gene, as reported in the other two known cases. This report provides additional evidence that WT1 mutations can result in diaphragmatic hernia. (c) 2008 Wiley-Liss, Inc.

引用

页码：496 / 499

页数：4

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Denys-Drash syndrome and congenital diaphragmatic hernia:: Another case with the 1097G &gt; A(Arg366His) mutation

Denys-Drash syndrome and congenital diaphragmatic hernia:: Another case with the 1097G > A(Arg366His) mutation