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Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome
- Source :
- Fetal and Pediatric Pathology, 35, 112-9, Fetal and Pediatric Pathology, 35, 2, pp. 112-9, Fetal and Pediatric Pathology, 35(2), 112-119. Informa Healthcare
- Publication Year :
- 2016
-
Abstract
- Contains fulltext : 168099.pdf (Publisher’s version ) (Open Access) Congenital nephrotic syndrome (CNS) caused by a mutation in the Wilms tumor 1 suppressor gene (WT1) is part of Denys Drash Syndrome or Frasier syndrome. In the framework of genetic counseling, the diagnosis of CNS can be refined with gene mutation studies on long-term stored formalin-fixed paraffin-embedded tissue from postmortem examination. We report a case of diffuse mesangial sclerosis with perinatal death caused by a de novo mutation in the WT1 gene in a girl with an XY-genotype. This is the first case of Denys Drash Syndrome with the uncommon missense c.1097G>A [p.(Arg366His)] mutation in the WT1 gene which has been diagnosed on long-term stored formalin-fixed paraffin-embedded tissue in 1993. This emphasizes the importance of retained and adequately stored tissue as a resource in the ongoing medical care and counseling.
- Subjects :
- Denys–Drash syndrome
Pathology
medicine.medical_specialty
Genes, Wilms Tumor
Nephrotic Syndrome
Tissue Fixation
Genetic counseling
congenital nephrotic syndrome
030232 urology & nephrology
Mutation, Missense
Gene mutation
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Pathology and Forensic Medicine
03 medical and health sciences
0302 clinical medicine
long-term tissue storage
medicine
Missense mutation
Humans
030212 general & internal medicine
WT1 Proteins
Congenital nephrotic syndrome
In Situ Hybridization, Fluorescence
Paraffin Embedding
business.industry
Wilms' tumor
General Medicine
medicine.disease
Denys-Drash Syndrome
Frasier syndrome
Wilms tumor 1 suppressor gene
perinatal death
Pediatrics, Perinatology and Child Health
Mutation (genetic algorithm)
Female
denys Drash syndrome
business
Subjects
Details
- ISSN :
- 15513815
- Database :
- OpenAIRE
- Journal :
- Fetal and Pediatric Pathology, 35, 112-9, Fetal and Pediatric Pathology, 35, 2, pp. 112-9, Fetal and Pediatric Pathology, 35(2), 112-119. Informa Healthcare
- Accession number :
- edsair.doi.dedup.....8542515d5a92511e5915f4ce35d0e3f5