Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
| dc.rights.license | open | en_US |
| dc.contributor.author | ALMES, Marion | |
| dc.contributor.author | SPRAUL, Anne | |
| dc.contributor.author | RUIZ, Mathias | |
| dc.contributor.author | GIRARD, Muriel | |
| dc.contributor.author | ROQUELAURE, Bertrand | |
| dc.contributor.author | LABORDE, Nolwenn | |
| dc.contributor.author | GOTTRAND, Frederic | |
| dc.contributor.author | TURQUET, Anne | |
| hal.structure.identifier | Bordeaux population health [BPH] | |
| dc.contributor.author | LAMIREAU, Thierry | |
| dc.contributor.author | DABADIE, Alain | |
| dc.contributor.author | BONNETON, Marjorie | |
| dc.contributor.author | THEBAUT, Alice | |
| dc.contributor.author | ROHMER, Babara | |
| dc.contributor.author | LACAILLE, Florence | |
| dc.contributor.author | BROUE, Pierre | |
| dc.contributor.author | FABRE, Alexandre | |
| dc.contributor.author | MENTION-MULLIEZ, Karine | |
| dc.contributor.author | BOULIGAND, Jerome | |
| dc.contributor.author | JACQUEMIN, Emmanuel | |
| dc.contributor.author | GONZALES, Emmanuel | |
| dc.date.accessioned | 2022-06-17T12:46:59Z | |
| dc.date.available | 2022-06-17T12:46:59Z | |
| dc.date.issued | 2022-05-07 | |
| dc.identifier.issn | 2075-4418 (Print) 2075-4418 (Linking) | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/140270 | |
| dc.description.abstractEn | 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. | |
| dc.language.iso | EN | en_US |
| dc.rights | Attribution 3.0 United States | * |
| dc.rights.uri | http://creativecommons.org/licenses/by/3.0/us/ | * |
| dc.subject.en | Genetic cholestasis | |
| dc.subject.en | Children | |
| dc.subject.en | NGS | |
| dc.subject.en | Neonatal sclerosing cholangitis | |
| dc.subject.en | PFIC | |
| dc.subject.en | Alagille syndrome | |
| dc.subject.en | Transient neonatal cholestasis | |
| dc.title.en | Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.3390/diagnostics12051169 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Santé publique et épidémiologie | en_US |
| dc.identifier.pubmed | 35626323 | en_US |
| bordeaux.journal | Diagnostics | en_US |
| bordeaux.volume | 12 | en_US |
| bordeaux.hal.laboratories | Bordeaux Population Health Research Center (BPH) - UMR 1219 | en_US |
| bordeaux.issue | 5 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.team | LEHA_BPH | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-03698440 | |
| hal.version | 1 | |
| hal.date.transferred | 2022-06-17T22:22:18Z | |
| hal.export | true | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Diagnostics&rft.date=2022-05-07&rft.volume=12&rft.issue=5&rft.eissn=2075-4418%20(Print)%202075-4418%20(Linking)&rft.issn=2075-4418%20(Print)%202075-4418%20(Linking)&rft.au=ALMES,%20Marion&SPRAUL,%20Anne&RUIZ,%20Mathias&GIRARD,%20Muriel&ROQUELAURE,%20Bertrand&rft.genre=article |
