Document Detail

Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
MedLine Citation:
PMID:  21851196     Owner:  NLM     Status:  MEDLINE    
Denys-Drash syndrome (DDS) is characterized by early onset of nephropathy, genitalia malformation, and Wilms' tumor, where WT1 is the gene that is mutated in most patients. We report two de novo mutations in WT1 found in two Chinese DDS children. Patient 1 was a boy with complete DDS who was presented with progressive nephropathy, unilateral Wilms' tumor, bilateral cryptorchidism, and renal histology showing diffuse mesangial sclerosis (DMS). When the patient was 24 months old, a liver ultrasound showed multiple nodules, and the patient died of pneumonia 1 month later. The de novo novel mutation, c.1130A>T (p.His377Leu), was identified; the mutation replaces histidine with leucine in the zinc finger (Znf) structure and is predicted to change the local spatial structure of the protein. Patient 2 had 46 XX with incomplete DDS and presented with normal genitalia, proteinuria, unilateral Wilms' tumor with renal pedicle lymph node metastasis, and renal histology showing DMS. Her renal function remains normal after 48 months. A de novo mutation, c.1168C>T (p.Arg390Term), was identified; it truncates 60 amino acids at the C terminus, and it is predicted to result in loss of the DNA-binding capacities of the WT1 protein.
Zhihui Yue; Yuanyuan Pei; Liangzhong Sun; Weijun Huang; Han Huang; Bin Hu; Juan Yang; Xiaoyun Jiang; Ying Mo; Shumei Chen; Kar Neng Lai; Yiming Wang
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't     Date:  2011-08-18
Journal Detail:
Title:  Renal failure     Volume:  33     ISSN:  1525-6049     ISO Abbreviation:  Ren Fail     Publication Date:  2011  
Date Detail:
Created Date:  2011-09-28     Completed Date:  2012-02-03     Revised Date:  2012-03-28    
Medline Journal Info:
Nlm Unique ID:  8701128     Medline TA:  Ren Fail     Country:  England    
Other Details:
Languages:  eng     Pagination:  910-4     Citation Subset:  IM    
Department of Paediatrics, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, PR China.
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MeSH Terms
Biopsy, Needle
Chemotherapy, Adjuvant
Child, Preschool
Denys-Drash Syndrome / genetics*,  pathology,  therapy*
Fatal Outcome
Follow-Up Studies
Genetic Predisposition to Disease*
Kidney Neoplasms / diagnosis,  genetics*,  surgery
Neoplasm Staging
Nephrectomy / methods
Risk Assessment
Treatment Outcome
WT1 Proteins / genetics*
Reg. No./Substance:
0/WT1 Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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