Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A

被引：1
作者：
Zhang, Bo [1 ,2 ]
Ding, Ying [1 ,2 ,3 ]
Ren, Xianqing [1 ,2 ]
Song, Chundong [1 ,2 ]
Zhang, Xia [1 ,2 ]
Wang, Fei [1 ]
Yang, Xiaoqing [1 ,2 ]
机构：
[1] Henan Univ Tradit Chinese Med, Affiliated Hosp 1, Zhengzhou 450000, Peoples R China
[2] Henan Univ Tradit Chinese Med, Med Coll Pediat, Zhengzhou 450000, Peoples R China
[3] Henan Univ Tradit Chinese Med, Affiliated Hosp 1, Med Coll Pediat, 19 Renmin Rd, Zhengzhou 450000, Peoples R China
来源：
EUROPEAN JOURNAL OF MEDICAL GENETICS | 2022年 / 65卷 / 12期
关键词：
WT1; disorder; Frasier syndrome; Congenital diaphragmatic eventration; DENYS-DRASH-SYNDROME; GENE; TISSUE; HERNIA;
D O I：
10.1016/j.ejmg.2022.104655
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
WT1 disorder is caused by a heterozygous variant in the gene WT1 (Wilms' tumor suppressor gene 1), and is clinically diagnosed as Denys-Drash, Meacham, or Frasier syndrome, on a phenotypic continuum that presents as abnormalities of the urogenital system and gonads. Rarely, manifestations appear in the lung, especially in Frasier syndrome. Here we describe the first noted case of congenital diaphragmatic eventration with pulmonary dysplasia in a child with Frasier syndrome. A c.1432+5G > A mutation in intron 9 of WT1 was found. We also summarize pulmonary diseases associated with WT1 mutations in WT1 disorder.
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页数：5
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