The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathy.

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Stephen TonnaJudy Savige

Abstract

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 demonstratio...Continue Reading

References

Sep 1, 1991·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·G MongaD Roccatello
Jan 1, 1982·Kidney International·K F Fairley, D F Birch
Aug 1, 1994·Kidney International·F G CosioD D Sedmak
Sep 1, 1996·The Journal of Clinical Investigation·H H LemminkH J Smeets
May 31, 2001·Kidney International·J E CollarV Cattell
Sep 11, 2001·The American Journal of Pathology·M SimonsH Holthöfer
Sep 27, 2001·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·M CiccareseA Satta
Dec 1, 2001·Journal of the American Society of Nephrology : JASN·Gianluca CaridiGian Marco Ghiggeri
Apr 19, 2002·Journal of the American Society of Nephrology : JASN·Cèlia BadenasRoser Torra
Dec 5, 2002·The Journal of Clinical Investigation·Hiroyasu TsukaguchiMartin R Pollak
Mar 13, 2003·Kidney International·Mark BuzzaJudy Savige
May 31, 2003·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Kesha RanaJudy Savige
Jun 24, 2003·Journal of the American Society of Nephrology : JASN·Rainer G RufFriedhelm Hildebrandt
Aug 16, 2003·Laboratory Investigation; a Journal of Technical Methods and Pathology·Ichiei NaritaFumitake Gejyo
Sep 13, 2003·Kidney International·Judy SavigeYan Yan Wang
Feb 12, 2004·Kidney International·Alexandre C PereiraJosé E Krieger
Apr 17, 2004·Kidney International·Chiara PescucciAlessandra Renieri
Jan 19, 2005·CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne·Denice S FeigUNKNOWN Canadian Task Force on Preventive Health Care

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Citations

Nov 20, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Constantinos Deltas
Jan 10, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Konstantinos VoskaridesConstantinos Deltas
Mar 22, 2013·PloS One·Konstantinos VoskaridesConstantinos Deltas
Sep 21, 2013·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Constantinos DeltasKonstantinos Voskarides
Mar 21, 2016·Pharmacological Research : the Official Journal of the Italian Pharmacological Society·Isavella SavvaConstantinos Deltas
Nov 3, 2009·The Journal of Pathology·Amy J McKnightAlexander P Maxwell
Nov 4, 2016·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Judy Savige
Feb 7, 2019·American Journal of Physiology. Renal Physiology·Steven D FunkJeffrey H Miner
Aug 1, 2019·Molecular Genetics & Genomic Medicine·Tomohiko YamamuraKazumoto Iijima
Dec 7, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Judy Savige
Jun 30, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Erol Demir, Yasar Caliskan
May 3, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michelle N RheaultRachel Lennon
Nov 1, 2013·CEN Case Reports·Shingo IshimoriKazumoto Iijima
Jul 11, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Judy SavigeHelen Storey
Oct 4, 2020·The Journal of Pathology·Jin-Ju Kim, Alessia Fornoni
Dec 22, 2017·Journal of the American Society of Nephrology : JASN·Steven D FunkJeffrey H Miner
Nov 26, 2020·Genes·Andrej ZupanAna Momirovska
Jul 28, 2020·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Clifford E Kashtan

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