Diagnostic utility of whole-genome sequencing ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Diagnostic utility of whole-genome sequencing for nephronophthisis
Auteur(s) :
Larrue, Romain [Auteur]
Chamley, Paul [Auteur]
Bardyn, Thomas [Auteur]
Lionet, Arnaud [Auteur]
Gnemmi, Viviane [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Cauffiez, Christelle [Auteur]
Glowacki, Francois [Auteur]
Pottier, Nicolas [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Broly, Franck [Auteur]
IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
Chamley, Paul [Auteur]
Bardyn, Thomas [Auteur]
Lionet, Arnaud [Auteur]
Gnemmi, Viviane [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Cauffiez, Christelle [Auteur]
Glowacki, Francois [Auteur]
Pottier, Nicolas [Auteur]
Cancer Heterogeneity, Plasticity and Resistance to Therapies (CANTHER) - UMR 9020 - UMR 1277
Broly, Franck [Auteur]
IMPact de l'Environnement Chimique sur la Santé humaine (IMPECS) - ULR 4483
Titre de la revue :
NPJ genomic medicine
Nom court de la revue :
npj Genom. Med.
Numéro :
5
Date de publication :
2020-09-21
ISSN :
2056-7944
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
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 ...
Lire la suite >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 NPHP3Lire moins >
Lire la suite >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 NPHP3Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
CNRS
Institut Pasteur de Lille
Université de Lille
CNRS
Institut Pasteur de Lille
Université de Lille
Collections :
Équipe(s) de recherche :
ULR 4483
Date de dépôt :
2022-02-02T10:23:16Z
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- Larrue et al..pdf
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