Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
Christine GastSarah Ennis

Abstract

Multiple genes underlying focal segmental glomerulosclerosis (FSGS) and/or steroid-resistant nephrotic syndrome (SRNS) have been identified, with the recent inclusion of collagen IV mutations responsible for Alport disease (AD) or thin basement membrane nephropathy (TBMN). We aimed to investigate the distribution of gene mutations in adult patients with primary FSGS/SRNS by targeted next generation sequencing (NGS). Eighty-one adults from 76 families were recruited; 24 families had a history of renal disease. A targeted NGS panel was designed and applied, covering 39 genes implicated in FSGS/SRNS including COL4A3-5. Confirmed pathogenic mutations were found in 10 patients (6 with family history) from 9 families (diagnostic rate 12%). Probably pathogenic mutations were identified in an additional six patients (combined diagnostic rate 20%). Definitely pathogenic mutations were identified in 22% of patients with family history and 10% without. Mutations in COL4A3-5 were present in eight patients from six families, representing 56% of definitely pathogenic mutations, and establishing a diagnosis of AD in six patients and TBMN in two patients. Collagen mutations were identified in 38% of families with familial FSGS, and 3% with spo...Continue Reading

References

Feb 11, 1988·Nucleic Acids Research·S A MillerH F Polesky
Mar 31, 2000·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·M NogueiraL D Truong
Sep 13, 2003·Kidney International·Judy SavigeYan Yan Wang
Aug 3, 2004·Journal of Computational Biology : a Journal of Computational Molecular Cell Biology·Gene Yeo, Christopher B Burge
Oct 28, 2005·Journal of the American Society of Nephrology : JASN·Astrid WeinsMartin R Pollak
Oct 19, 2007·Journal of the American Society of Nephrology : JASN·Konstantinos VoskaridesConstantinos Deltas
Oct 24, 2007·American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation·Kirtida MistryMartin R Pollak
Apr 17, 2008·Genetics in Medicine : Official Journal of the American College of Medical Genetics·C Sue RichardsUNKNOWN Molecular Subcommittee of the ACMG Laboratory Quality Assurance Committee
Nov 7, 2008·Nature·Timothy J LeyRichard K Wilson
Feb 28, 2009·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Pierre CochatLothar Bernd Zimmerhackl
Jun 10, 2009·Bioinformatics·Heng LiUNKNOWN 1000 Genome Project Data Processing Subgroup
Jan 30, 2010·Bioinformatics·Aaron R Quinlan, Ira M Hall
Feb 13, 2010·Journal of the American Society of Nephrology : JASN·Seth GoldbergJeffrey H Miner
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Jun 4, 2010·Pediatric Transplantation·Modini VinaiMouin G Seikaly
Jul 3, 2010·Clinical Journal of the American Society of Nephrology : CJASN·Gil CherninUNKNOWN Members of the GPN Study Group
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
Oct 29, 2010·Nature·Gonçalo R AbecasisGil A McVean
Mar 19, 2011·Clinical Journal of the American Society of Nephrology : CJASN·Sheila SantínElisabet Ars
Sep 8, 2011·European Journal of Human Genetics : EJHG·Rosangela ArtusoMirella Bruttini
Nov 7, 2012·Nature·UNKNOWN 1000 Genomes Project ConsortiumGil A McVean
Dec 25, 2012·Orphanet Journal of Rare Diseases·Xiao-Dan YaoZhi-Hong Liu
Jan 26, 2013·Journal of the American Society of Nephrology : JASN·Judy SavigeFrances Flinter
Jan 26, 2013·Clinical Journal of the American Society of Nephrology : CJASN·Hugh J McCarthyUNKNOWN RADAR the UK SRNS Study Group
Apr 10, 2013·Human Mutation·Birgit Sikkema-RaddatzRichard J Sinke
Sep 28, 2013·Genome Medicine·Reuben J PengellySarah Ennis
Mar 7, 2014·Kidney International·Elizabeth J BrownMoumita Barua
Mar 29, 2014·Journal of the American Society of Nephrology : JASN·Rasheed A GbadegesinMichelle P Winn
Jun 20, 2014·Clinical Kidney Journal·Jennifer AdamJohn A Sayer
Sep 18, 2014·Kidney International·Andrew F MaloneRasheed A Gbadegesin
Oct 29, 2014·Journal of the American Society of Nephrology : JASN·Carolin E SadowskiFriedhelm Hildebrandt

❮ Previous
Next ❯

Citations

Feb 29, 2016·Lancet·Jürgen Floege, Kerstin Amann
Jun 10, 2016·Clinical Journal of the American Society of Nephrology : CJASN·Naohiro KamiyoshiKazumoto Iijima
Jul 20, 2016·American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons·C P ThomasR J H Smith
Dec 29, 2016·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Masao KikuchiRoger C Wiggins
Jul 26, 2017·Transplantation·Krista L LentineAmit X Garg
Feb 22, 2018·Current Opinion in Nephrology and Hypertension·Bedra Sharif, Moumita Barua
Dec 6, 2017·Annals of Internal Medicine·Sneh LataAli G Gharavi
Jan 3, 2019·Current Opinion in Nephrology and Hypertension·Margaret E Armstrong, Christie P Thomas
Feb 6, 2019·Journal of Clinical Medicine·Jiwon M LeeHae Ii Cheong
Feb 28, 2019·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Dervla M Connaughton, Friedhelm Hildebrandt
Mar 14, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Daniela A BraunFriedhelm Hildebrandt
Mar 1, 2017·Clinical Journal of the American Society of Nephrology : CJASN·Avi Z Rosenberg, Jeffrey B Kopp
Jan 17, 2019·Clinical Journal of the American Society of Nephrology : CJASN·Tony YaoMoumita Barua
Jul 5, 2016·Nature Reviews. Nephrology·Marijn F StokmanAlbertien M van Eerde
May 3, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ashima GulatiAlda Tufro
Jan 9, 2018·Nature Reviews. Nephrology·Emily E GroopmanAli G Gharavi
Dec 7, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Judy Savige
Dec 14, 2019·Clinical Journal of the American Society of Nephrology : CJASN·Samuela LandiniPaola Romagnani
Dec 18, 2019·Clinical Journal of the American Society of Nephrology : CJASN·Franz Schaefer
Mar 12, 2020·Kidney Research and Clinical Practice·Hae Il Cheong
Jun 17, 2020·Molecular Genetics & Genomic Medicine·Tomoko HorinouchiKandai Nozu
Aug 11, 2020·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Susan L MurrayPeter J Conlon
Sep 1, 2020·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Juliana Maria Ferraz SallumRubens Belfort
Apr 10, 2017·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·Ladan ZandFernando C Fervenza
Jul 14, 2018·Human Genome Variation·Stephanie L HinesPaldeep S Atwal
Dec 29, 2018·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Alexander J Howie
May 3, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Michelle N RheaultRachel Lennon
May 31, 2019·Molecular Genetics & Genomic Medicine·Shunlai ShangXiang M Chen
Jun 30, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Erol Demir, Yasar Caliskan
Feb 18, 2020·Clinical Science·Holly Mabillard, John A Sayer
May 14, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ria SchönauerJan Halbritter
May 13, 2020·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Gulsah OzdemirRezan Topaloglu
Aug 19, 2020·Nature Reviews. Nephrology·Emily E GroopmanAli G Gharavi
Apr 13, 2018·Clinical Kidney Journal·Nicola LeporiFernando C Fervenza
Oct 9, 2018·Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association·David SchapiroFriedhelm Hildebrandt
May 16, 2019·Journal of the American Society of Nephrology : JASN·Sophia Cameron-ChristieAli G Gharavi
Aug 7, 2019·Clinical Kidney Journal·Nahid TabibzadehPhilippe Vanhille
Jul 17, 2019·Journal of the American Society of Nephrology : JASN·Minxian WangMartin R Pollak
Jun 27, 2019·Proceedings of the National Academy of Sciences of the United States of America·Sun-Ji ParkYing Maggie Chen

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Feng ZhaoGuang-Ming Chen
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia
Clifford E Kashtan
Clinical Journal of the American Society of Nephrology : CJASN
Maddalena GiganteLoreto Gesualdo
© 2021 Meta ULC. All rights reserved