Titre :

Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis.

Auteur(s) :

Almes, Marion [Auteur]
Physiopathogénèse et Traitement des Maladies du Foie [HEPAREG]
Spraul, Anne [Auteur]
Ruiz, Mathias [Auteur]
Girard, Muriel [Auteur]
Roquelaure, Bertrand [Auteur]
Laborde, Nolwenn [Auteur]
Gottrand, fréderic [Auteur]
Institute for Translational Research in Inflammation - U 1286 [INFINITE]
Turquet, Anne [Auteur]
Lamireau, Thierry [Auteur]
Dabadie, Alain [Auteur]
Bonneton, Marjorie [Auteur]
Thebaut, Alice [Auteur]
Rohmer, Barbara [Auteur]
Lacaille, Florence [Auteur]
Broué, Pierre [Auteur]
Fabre, Alexandre [Auteur]
Mention-Mulliez, Karine [Auteur]
Bouligand, Jérôme [Auteur]
Jacquemin, Emmanuel [Auteur]
Gonzales, Emmanuel [Auteur]

Titre de la revue :

Diagnostics

Nom court de la revue :

Diagnostics (Basel)

Numéro :

12

Pagination :

11-69

Date de publication :

2022-05-31

ISSN :

2075-4418

Mot(s)-clé(s) en anglais :

genetic cholestasis
children
NGS
neonatal sclerosing cholangitis
PFIC
Alagille syndrome
transient neonatal cholestasis

Discipline(s) HAL :

Sciences du Vivant [q-bio]

Résumé en anglais : [en]

Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) ...
Lire la suite >Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an efficient diagnostic tool. The objective of this study is to evaluate the use of NGS in children with cholestasis. Methods: Children presenting cholestasis were included between 2015 and 2020. Molecular sequencing was performed by targeted capture of a panel of 34 genes involved in cholestasis and jaundice. Patients were classified into three categories: certain diagnosis; suggested diagnosis (when genotype was consistent with phenotype for conditions without any available OMIM or ORPHANET-number); uncertain diagnosis (when clinical and para-clinical findings were not consistent enough with molecular findings). Results: A certain diagnosis was established in 169 patients among the 602 included (28.1%). Molecular studies led to a suggested diagnosis in 40 patients (6.6%) and to an uncertain diagnosis in 21 patients (3.5%). In 372 children (61.7%), no molecular defect was identified. Conclusions: NGS is a useful diagnostic tool in pediatric cholestasis, providing a certain diagnosis in 28.1% of the patients included in this study. In the remaining patients, especially those with variants of uncertain significance, the imputability of the variants requires further investigations.Lire moins >

Langue :

Anglais

Audience :

Internationale

Vulgarisation :

Non

Établissement(s) :

Université de Lille
Inserm
CHU Lille

Collections :

• Institut de Recherche Translationnelle sur l'Inflammation (INFINITE) - U1286

Date de dépôt :

2024-01-12T01:24:37Z
2024-03-25T09:52:27Z
2024-04-23T09:33:59Z