Document Detail

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.
MedLine Citation:
PMID:  18726620     Owner:  NLM     Status:  MEDLINE    
Thin-basement-membrane nephropathy (TBMN) is characterized by persistent dysmorphic hematuria, and the presence of proteinuria is a risk factor for renal impairment. TBMN is often due to mutations in the COL4A3 and COL4A4 genes, and this study determined whether additional mutations in genes encoding other structures in the glomerular filtration barrier contributed to the development of proteinuria. Fifty-six unrelated individuals with TBMN including 18 (32%) with proteinuria > or = 300 mg/L and ten (18%) with proteinuria > or = 500 mg/L were studied. Deoxyribonucleic acid (DNA) was screened for NPHS2 mutations and variants (R138Q and P375L) using single-stranded conformational analysis (SSCA) and for the R229Q mutation by sequencing. DNA was also screened for ACTN4 mutations. R229Q was more common in patients with TBMN and proteinuria > or = 500 mg/L (p < 0.05), and a possible NPHS2 mutation (671G>A, R224H) was identified in one patient with proteinuria 700 mg/L. No other NPHS2 variants correlated with proteinuria, and no ACTN4 mutations were found. Individuals with TBMN and R229Q are carriers of the autosomal recessive forms of both Alport syndrome and familial focal segmental glomerulosclerosis (FSGS). The early demonstration of R229Q in individuals with TBMN may indicate those at increased risk of proteinuria and renal impairment.
Stephen Tonna; Yan Yan Wang; Diane Wilson; Lin Rigby; Tania Tabone; Richard Cotton; Judy Savige
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't     Date:  2008-08-26
Journal Detail:
Title:  Pediatric nephrology (Berlin, Germany)     Volume:  23     ISSN:  0931-041X     ISO Abbreviation:  Pediatr. Nephrol.     Publication Date:  2008 Dec 
Date Detail:
Created Date:  2008-10-31     Completed Date:  2009-04-14     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  8708728     Medline TA:  Pediatr Nephrol     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  2201-7     Citation Subset:  IM    
Department of Medicine, The Northern Hospital, The University of Melbourne, Epping, VIC 3076, Australia.
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MeSH Terms
Actinin / genetics
Autoantigens / genetics
Child, Preschool
Collagen Type IV / genetics
DNA / genetics
Genetic Predisposition to Disease*
Genetic Testing
Glomerular Basement Membrane / pathology*
Intracellular Signaling Peptides and Proteins / genetics*
Kidney Diseases / genetics*,  pathology*
Membrane Proteins / genetics*
Middle Aged
Mutation / genetics*
Proteinuria / genetics*
Young Adult
Reg. No./Substance:
0/ACTN4 protein, human; 0/Autoantigens; 0/COL4A4 protein, human; 0/Collagen Type IV; 0/Intracellular Signaling Peptides and Proteins; 0/Membrane Proteins; 0/NPHS2 protein; 0/type IV collagen alpha3 chain; 11003-00-2/Actinin; 9007-49-2/DNA

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

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