title: Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
abstract: 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.
authors.affiliation: a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
authors.forename: Lisa Maria
authors.initials: LM
authors.lastname: Hillen
authors.affiliation: b Department of Clinical Genetics , University Medical Center , Nijmegen , The Netherlands.
authors.forename: Erik Jan
authors.initials: EJ
authors.lastname: Kamsteeg
authors.affiliation: b Department of Clinical Genetics , University Medical Center , Nijmegen , The Netherlands.
authors.forename: Jeroen
authors.initials: J
authors.lastname: Schoots
authors.affiliation: c Department of Pathology , Martini Ziekenhuis Groningen , Groningen , The Netherlands.
authors.forename: Anton Tom
authors.initials: AT
authors.lastname: Tiebosch
authors.affiliation: a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
authors.forename: Ernst Jan
authors.initials: EJ
authors.lastname: Speel
authors.affiliation: a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
authors.forename: Guido M
authors.initials: GM
authors.lastname: Roemen
authors.affiliation: a Department of Pathology , Maastricht University Medical Center , Maastricht , The Netherlands.
authors.forename: Carine J
authors.initials: CJ
authors.lastname: Peutz-Koostra
authors.affiliation: d Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW) , Maastricht University Medical Center , Maastricht , The Netherlands.
authors.forename: Constance T R M
authors.initials: CT
authors.lastname: Stumpel
mesh_terms: D030321:Denys-Drash Syndrome / Q000235:genetics*; D005260:Female; D016162:Genes, Wilms Tumor; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D020125:Mutation, Missense; D009404:Nephrotic Syndrome / Q000175:diagnosis* / Q000235:genetics*; D016612:Paraffin Embedding; D016707:Tissue Fixation; D025721:WT1 Proteins / Q000235:genetics
chemical_list: D025721:WT1 Proteins
keywords: Wilms tumor 1 suppressor gene; congenital nephrotic syndrome; denys Drash syndrome; long-term tissue storage; perinatal death