Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

Human Molecular Genetics
Martin ZenkerAndré Reis

Abstract

Congenital nephrotic syndrome (CNS) is clinically and genetically heterogeneous, with mutations in WT1, NPHS1 and NPHS2 accounting for part of cases. We recently delineated a new autosomal recessive entity comprising CNS with diffuse mesangial sclerosis and distinct ocular anomalies with microcoria as the leading clinical feature (Pierson syndrome). On the basis of homozygosity mapping to markers on chromosome 3p14-p22, we identified homozygous or compound heterozygous mutations of LAMB2 in patients from five unrelated families. Most disease-associated alleles were truncating mutations. Using immunohistochemistry and western blotting we could demonstrate that the respective LAMB2 mutations lead to loss of laminin beta2 expression in kidney and other tissues studied. Laminin beta2 is known to be abundantly expressed in the glomerular basement membrane (GBM) where it is thought to play a key role in anchoring as well as differentiation of podocyte foot processes. Lamb2 knockout mice were reported to exhibit congenital nephrosis in association with anomalies of retina and neuromuscular junctions. By studying ocular laminin beta2 expression in unaffected controls, we detected the strongest expression in the intraocular muscles corr...Continue Reading

References

Nov 1, 1979·The Journal of Cell Biology·J R Sanes, Z W Hall
Sep 8, 1992·The Journal of Comparative Neurology·D D HunterJ R Sanes
Jul 1, 1990·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·C GlastreL David
May 4, 1999·The Journal of Cell Biology·H ColognatoP D Yurchenco
Sep 11, 1999·The International Journal of Biochemistry & Cell Biology·J H Miner, B L Patton
Mar 31, 2000·Nature Genetics·S Somlo, P Mundel
Oct 31, 2000·Microscopy Research and Technique·P TunggalM C Ott
May 16, 2002·Microscopy Research and Technique·Naoto Kobayashi
Jan 10, 2004·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Janusz SwietlińskiJoanna Zacharzewska
Mar 5, 2004·Matrix Biology : Journal of the International Society for Matrix Biology·Peter D YurchencoBruce L Patton
Sep 17, 2004·American Journal of Medical Genetics. Part a·Martin ZenkerLuitgard M Neumann

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Citations

Apr 12, 2007·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Susanne SchéelePeter Ekblom
Aug 4, 2009·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Martin ZenkerCorinne Antignac
May 12, 2007·Histochemistry and Cell Biology·Berit ByströmFatima Pedrosa Domellöf
Sep 17, 2009·Cell and Tissue Research·Tom Van Agtmael, Leena Bruckner-Tuderman
Aug 24, 2006·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Patrick Niaudet, Marie-Claire Gubler
Jan 16, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Daniel LandauRuti Parvari
Oct 16, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hee Yeon ChoHae Il Cheong
Oct 19, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Mikhail KaganMartin Zenker
Oct 31, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hannu Jalanko
Dec 7, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Fatih OzaltinAysin Bakkaloglu
Feb 14, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Bernward G Hinkes
Feb 19, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Hyun Jin ChoiHae Il Cheong
Jun 11, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gil CherninFriedhelm Hildebrandt
Jul 3, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Andreas DietrichMartin Zenker
Aug 19, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Khalid IsmailiMichelle Hall
Dec 11, 2008·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gianluca CaridiGian Marco Ghiggeri
Mar 2, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ben C ReynoldsDavid A Hughes
Mar 25, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Geneviève BenoitCorinne Antignac
Nov 27, 2010·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Rasheed GbadegesinMichelle Winn
Feb 18, 2011·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Jeffrey H Miner
Jan 10, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Anja LehnhardtMarkus J Kemper
Jul 12, 2012·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Moin A Saleem
Jan 25, 2013·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Isabelle Russell-Eggitt, Detlef Bockenhauer
Jun 29, 2013·The International Journal of Biochemistry & Cell Biology·Toshiyuki Imasawa, Rodrigue Rossignol
Aug 23, 2007·Visual Neuroscience·Viktória DénesWilliam J Brunken
Apr 19, 2013·Journal of Human Genetics·Mohamed H Al-HamedBrian F Meyer
Dec 21, 2007·Nature Clinical Practice. Nephrology·Marie Claire Gubler
Mar 28, 2008·Nature Clinical Practice. Nephrology·Martin H de BorstGiuseppe Remuzzi
Nov 30, 2006·Nature Genetics·Susan E Quaggin
Jul 21, 2010·Nature Reviews. Nephrology·Chih-Kang Chiang, Reiko Inagi
Jan 17, 2013·Nature Reviews. Nephrology·Rasheed A GbadegesinWilliam E Smoyer
Jun 19, 2013·Nature Reviews. Nephrology·Jung Hee Suh, Jeffrey H Miner
Mar 31, 2006·The New England Journal of Medicine·Karl TryggvasonJorma Wartiovaara
Dec 23, 2011·The New England Journal of Medicine·Vivette D D'AgatiRonald J Falk
Aug 31, 2011·Proceedings of the National Academy of Sciences of the United States of America·Jung Hee SuhJeffrey H Miner
Jan 6, 2010·The Journal of Biological Chemistry·Malia M EdwardsPatsy M Nishina
Jan 17, 2009·The Journal of Biological Chemistry·Yukimasa TaniguchiKiyotoshi Sekiguchi
Oct 8, 2009·Human Molecular Genetics·Eduardo MachucaCorinne Antignac
Oct 3, 2009·Human Molecular Genetics·Julien RateladeLaurence Heidet
Mar 22, 2008·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Fredrik DunérAnnika Wernerson
Oct 29, 2009·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Dan ZhaoYan Zhang
Jul 24, 2010·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Nathalie Godefroid, Karin Dahan
Feb 16, 2012·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Ilse M RoodJack F M Wetzels
Jul 7, 2011·Current Opinion in Ophthalmology·Linda M Reis, Elena V Semina
Apr 11, 2007·Current Opinion in Nephrology and Hypertension·Michel LeHir, Wilhelm Kriz
Jul 29, 2008·Current Opinion in Nephrology and Hypertension·Peter J LavinMichelle P Winn
Apr 18, 2009·Current Opinion in Nephrology and Hypertension·George Jarad, Jeffrey H Miner
Apr 15, 2009·Current Opinion in Nephrology and Hypertension·Andrew H J SalmonSteven J Harper

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