Dominant negative mutation in oxalate transporter
missense
mutation
nephrology
urology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
11 2022
11 2022
Historique:
received:
11
10
2021
accepted:
11
01
2022
pubmed:
5
2
2022
medline:
26
10
2022
entrez:
4
2
2022
Statut:
ppublish
Résumé
Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health systems worldwide. It results from a combination of environmental and genetic factors. Hyperoxaluria is a major risk factor for NL. We used a whole exome-based approach in a patient with calcium oxalate NL. The effects of the mutation were characterised using cell culture and in silico analyses. We identified a rare heterozygous missense mutation (c.1519C>T/p.R507W) in the Our study is in line with previous observations made in the mouse showing that
Sections du résumé
BACKGROUND
Nephrolithiasis (NL) is a complex multifactorial disease affecting up to 10%-20% of the human population and causing a significant burden on public health systems worldwide. It results from a combination of environmental and genetic factors. Hyperoxaluria is a major risk factor for NL.
METHODS
We used a whole exome-based approach in a patient with calcium oxalate NL. The effects of the mutation were characterised using cell culture and in silico analyses.
RESULTS
We identified a rare heterozygous missense mutation (c.1519C>T/p.R507W) in the
CONCLUSION
Our study is in line with previous observations made in the mouse showing that
Identifiants
pubmed: 35115415
pii: jmedgenet-2021-108256
doi: 10.1136/jmedgenet-2021-108256
pmc: PMC9346097
mid: NIHMS1807775
doi:
Substances chimiques
Antiporters
0
Calcium
SY7Q814VUP
Calcium Oxalate
2612HC57YE
Oxalates
0
Sulfate Transporters
0
SLC26A6 protein, human
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1035-1043Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK033793
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Nat Protoc. 2016 Jan;11(1):1-9
pubmed: 26633127
Am J Physiol Gastrointest Liver Physiol. 2006 Apr;290(4):G719-28
pubmed: 16373425
Am J Clin Nutr. 1973 Jul;26(7):758-65
pubmed: 4576881
J Biol Chem. 2002 Sep 13;277(37):33963-7
pubmed: 12119287
J Urol. 2016 Jul;196(1):118-23
pubmed: 26812303
J Am Soc Nephrol. 2019 Feb 6;:
pubmed: 30728179
Am J Physiol Cell Physiol. 2016 Dec 1;311(6):C866-C873
pubmed: 27681177
J Am Soc Nephrol. 2013 Oct;24(10):1617-26
pubmed: 23833257
Kidney Int. 2001 Jan;59(1):270-6
pubmed: 11135080
Am J Kidney Dis. 2008 Dec;52(6):1096-103
pubmed: 18951670
BJU Int. 2016 Nov;118(5):785-789
pubmed: 27128735
J Clin Invest. 2005 Oct;115(10):2598-608
pubmed: 16200192
JAMA. 2013 Jul 24;310(4):408-15
pubmed: 23917291
Eur J Endocrinol. 2009 Feb;160(2):283-8
pubmed: 19029225
Nephron. 1980;26(3):105-10
pubmed: 7412965
Nat Commun. 2019 May 2;10(1):2032
pubmed: 31048734
Clin J Am Soc Nephrol. 2014 Dec 5;9(12):2133-40
pubmed: 25341724
Rev Urol. 2010 Spring;12(2-3):e86-96
pubmed: 20811557
Nat Genet. 2006 Apr;38(4):474-8
pubmed: 16532010
N Engl J Med. 2013 Aug 15;369(7):649-58
pubmed: 23944302
BMJ. 2012 Aug 29;345:e5287
pubmed: 22936784
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
Kidney Int. 2008 Feb;73(4):489-96
pubmed: 18059457
Proc Natl Acad Sci U S A. 2001 Jul 31;98(16):9425-30
pubmed: 11459928
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
J Am Soc Nephrol. 2011 Dec;22(12):2247-55
pubmed: 22021714
Elife. 2019 Jul 24;8:
pubmed: 31339488
Front Pharmacol. 2020 Apr 07;11:405
pubmed: 32317970