Diagnostic utility of whole-genome sequencing for nephronophthisis.
Molecular medicine
Paediatric kidney disease
Journal
NPJ genomic medicine
ISSN: 2056-7944
Titre abrégé: NPJ Genom Med
Pays: England
ID NLM: 101685193
Informations de publication
Date de publication:
2020
2020
Historique:
received:
13
04
2020
accepted:
19
08
2020
entrez:
7
10
2020
pubmed:
8
10
2020
medline:
8
10
2020
Statut:
epublish
Résumé
Next-generation sequencing has revolutionized the molecular diagnosis of individuals affected by genetic kidney diseases. Indeed, rapid genetic testing in individuals with suspected inherited nephropathy has not only important implications for diagnosis and prognosis but also for genetic counseling. Nephronophthisis (NPHP) and related syndromes, a leading cause of end-stage renal failure, are autosomal recessive disorders characterized by the variable presentation and considerable locus heterogeneity with more than 90 genes described as single-gene causes. In this case report, we demonstrate the utility of whole-genome sequencing (WGS) for the molecular diagnosis of NPHP by identifying two putative disease-causing intronic mutations in the
Identifiants
pubmed: 33024573
doi: 10.1038/s41525-020-00147-8
pii: 10.1038/s41525-020-00147-8
pmc: PMC7506526
doi:
Types de publication
Case Reports
Langues
eng
Pagination
38Informations de copyright
© The Author(s) 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing interests.
Références
Pediatr Nephrol. 2018 Oct;33(10):1701-1712
pubmed: 29974258
Kidney Int. 2009 Apr;75(8):839-47
pubmed: 19177160
Am J Hum Genet. 2019 Jan 3;104(1):45-54
pubmed: 30609407
Cold Spring Harb Perspect Biol. 2017 Mar 1;9(3):
pubmed: 27793968
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Nephrology (Carlton). 2018 Oct;23(10):904-911
pubmed: 29717526
Nat Genet. 2003 Aug;34(4):455-9
pubmed: 12872122
N Engl J Med. 2018 Oct 04;379(14):1353-1362
pubmed: 30281996
BMJ Open. 2019 Nov 3;9(11):e029699
pubmed: 31685495
EJIFCC. 2018 Apr 30;29(1):4-14
pubmed: 29765282
J Appl Genet. 2018 Aug;59(3):253-268
pubmed: 29680930
Kidney Int. 2016 Feb;89(2):468-475
pubmed: 26489029
N Engl J Med. 2011 Apr 21;364(16):1533-43
pubmed: 21506742
EJIFCC. 2018 Nov 07;29(3):215-220
pubmed: 30479607
Hum Genet. 2017 Sep;136(9):1093-1111
pubmed: 28497172
Eur J Hum Genet. 2020 Feb;28(2):165-173
pubmed: 31527858