| The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy. | |
| | |
MedLine Citation:
|
PMID: 18726620 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
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 |
Affiliation:
|
Department of Medicine, The Northern Hospital, The University of Melbourne, Epping, VIC 3076, Australia. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Actinin
/
genetics Adolescent Adult Aged Autoantigens / genetics Child Child, Preschool Collagen Type IV / genetics DNA / genetics Female Genetic Predisposition to Disease* Genetic Testing Glomerular Basement Membrane / pathology* Humans Intracellular Signaling Peptides and Proteins / genetics* Kidney Diseases / genetics*, pathology* Male Membrane Proteins / genetics* Middle Aged Mutation / genetics* Proteinuria / genetics* Young Adult |
| Chemical | |
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
Previous Document: Use of response surface methodology for optimizing process parameters for high inulinase production ...
Next Document: Cloning, extracellular expression and characterization of a predominant beta-CGTase from Bacillus sp...