Titre :

Diagnostic utility of whole-genome sequencing for nephronophthisis

Auteur(s) :

Larrue, Romain [Auteur]
Hétérogénéité, Plasticité et Résistance aux Thérapies des Cancers = Cancer Heterogeneity, Plasticity and Resistance to Therapies - UMR 9020 - U 1277 [CANTHER]
Chamley, Paul [Auteur]
Service de Néphrologie et Transplantation rénale [CHRU-lille]
Bardyn, Thomas [Auteur]
Toxicologie et Génopathies [CHRU Lille]
Lionet, Arnaud [Auteur]
Service de Néphrologie et Transplantation rénale [CHRU-lille]
Gnemmi, Viviane [Auteur]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Cauffiez, Christelle [Auteur]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Glowacki, Francois [Auteur]
Service de Néphrologie et Transplantation rénale [CHRU-lille]
Pottier, Nicolas [Auteur]
Miniaturisation pour la Synthèse, l’Analyse et la Protéomique - UAR 3290 [MSAP]
Broly, Franck [Auteur]
Impact de l'environnement chimique sur la santé humaine - ULR 4483 [IMPECS]

Titre de la revue :

npj Genomic Medicine

Pagination :

38

Éditeur :

Springer Nature

Date de publication :

2020

Discipline(s) HAL :

Sciences du Vivant [q-bio]/Médecine humaine et pathologie/Urologie et Néphrologie
Sciences du Vivant [q-bio]/Génétique/Génétique humaine

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 NPHP3 gene, including one deep intronic variant. We further show that both intronic variants, by affecting splicing, result in a truncated nephrocystin-3 protein. This study provides a framework for applying WGS as a first-line diagnostic tool for highly heterogeneous disease such as NPHP and further suggests that deep intronic variations are an important underestimated cause of monogenic disorders.Lire moins >

Langue :

Anglais

Vulgarisation :

Non

Collections :

• Centre d'Infection et d'Immunité de Lille (CIIL) - U1019 - UMR 9017

Source :

Harvested from HAL

Date de dépôt :

2024-02-17T04:02:00Z