| Case report: WT1 exon 6 truncation mutation and ambiguous genitalia in a patient with Denys-Drash syndrome. | |
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MedLine Citation:
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PMID: 18197048 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Denys-Drash syndrome is a rare genetic disorder featuring the triad of congenital nephropathy, Wilms tumor, and intersex disorders (XY under-virilization or XY female). Denys-Drash syndrome is associated with constitutional mutations in the Wilms tumor suppressor gene WT1. Unlike WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome, with its complete deletion of one copy of WT1, Denys-Drash syndrome is generally caused by a dominant-negative mutation. We present a new case of Denys-Drash syndrome in a patient initially diagnosed with XY ambiguous genitalia/partial androgen insensitivity syndrome, who was found to have a novel nonsense mutation in exon 6 leading to a stop codon and hence a truncated protein. Based on lessons learned from this patient, the diagnosis of Denys-Drash syndrome should be considered in the presence of ambiguous genitalia and partial androgen insensitivity. |
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Authors:
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Pei-Wen Chiang; Sofia Aliaga; Sharon Travers; Elaine Spector; Anne Chun-Hui Tsai |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Current opinion in pediatrics Volume: 20 ISSN: 1040-8703 ISO Abbreviation: Curr. Opin. Pediatr. Publication Date: 2008 Feb |
Date Detail:
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Created Date: 2008-01-16 Completed Date: 2008-04-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9000850 Medline TA: Curr Opin Pediatr Country: United States |
Other Details:
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Languages: eng Pagination: 103-6 Citation Subset: IM |
Affiliation:
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DNA Diagnostic Laboratory, Department Pediatrics, University of Colorado at Denver and Health Sciences Center Aurora, Colorado, USA. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Denys-Drash Syndrome
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genetics*,
pathology* Exons / genetics Female Genes, Wilms Tumor* Humans Infant Mutation / genetics* |
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