DIAPHRAGMATIC-HERNIA IN DENYS-DRASH SYNDROME

被引:56
作者
DEVRIENDT, K
DELOOF, E
MOERMAN, P
LEGIUS, E
VANHOLE, C
DEZEGHER, F
PROESMANS, W
DEVLIEGER, H
机构
[1] KATHOLIEKE UNIV LEUVEN HOSP, DEPT PEDIAT, LOUVAIN, BELGIUM
[2] KATHOLIEKE UNIV LEUVEN HOSP, DEPT PATHOL, LOUVAIN, BELGIUM
[3] KATHOLIEKE UNIV LEUVEN HOSP, CTR HUMAN GENET, LOUVAIN, BELGIUM
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 57卷 / 01期
关键词
PSEUDOHERMAPHRODITISM; WT1-GENE; DEVELOPMENT;
D O I
10.1002/ajmg.1320570120
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a newborn infant with male pseudohermaphroditism and glomerular lesions (Denys-Drash syndrome) but without Wilms tumor, A constitutional heterozygous mutation in the WT1 gene ((366)Arg to His) was identified, In addition the child had a large diaphragmatic hernia, so far not described in Denys-Drash syndrome. The expression of the WT1 gene in pleural and abdominal mesothelium and the occurrence of diaphragmatic hernia in transgenic mice with a homozygous WT1 deletion strongly suggests that the diaphragmatic hernia in this patient is part of the malformation pattern caused by WT1 mutations. (C) 1995 Wiley-Liss, Inc.
引用
收藏
页码:97 / 101
页数:5
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