dc.rights.license | open | en_US |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | COURSIMAULT, Juliette | |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | CASSINARI, Kevin | |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | LECOQUIERRE, François | |
hal.structure.identifier | Service de neurologie [Rouen] | |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | QUENEZ, Olivier | |
hal.structure.identifier | CHU Rouen | |
hal.structure.identifier | Service de Génétique [CHU Rouen] | |
dc.contributor.author | COUTANT, Sophie | |
hal.structure.identifier | Service de Génétique [CHU Rouen] | |
dc.contributor.author | DERAMBURE, Celine | |
hal.structure.identifier | Service de Génétique [CHU Rouen] | |
dc.contributor.author | VEZAIN, Myriam | |
hal.structure.identifier | Service de génétique [Rouen] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | DROUOT, Nathalie | |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | VERA, Gabriella | |
hal.structure.identifier | Laboratoire de Génétique Médicale [LGM] | |
dc.contributor.author | SCHAEFER, Elise | |
hal.structure.identifier | Hôpital de Hautepierre [Strasbourg] | |
dc.contributor.author | PHILIPPE, Anais | |
hal.structure.identifier | Service de génétique médicale | |
dc.contributor.author | DORAY, Benerice | |
hal.structure.identifier | Service de Génétique Clinique [CHRU Nancy] | |
dc.contributor.author | LAMBERT, Laetitia | |
hal.structure.identifier | Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME] | |
dc.contributor.author | GHOUMID, Jamal | |
hal.structure.identifier | Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME] | |
dc.contributor.author | SMOL, Thomas | |
hal.structure.identifier | Service de Génétique Médicale [Lille] | |
dc.contributor.author | RAMA, Melanie | |
hal.structure.identifier | Service de génétique médicale | |
hal.structure.identifier | Centre Hospitalier Universitaire de Bordeaux [CHU Bordeaux] | |
dc.contributor.author | LEGENDRE, Marine | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | LACOMBE, Didier | |
hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
dc.contributor.author | FERGELOT, Patricia | |
hal.structure.identifier | Centre National de Recherche en Génomique Humaine [CNRGH] | |
dc.contributor.author | OLASO, Robert | |
hal.structure.identifier | Centre National de Recherche en Génomique Humaine [CNRGH] | |
dc.contributor.author | BOLAND, Anne | |
hal.structure.identifier | Centre National de Recherche en Génomique Humaine [CNRGH] | |
dc.contributor.author | DELEUZE, Jean-Francois | |
hal.structure.identifier | UNIROUEN - UFR Santé [UNIROUEN UFR Santé] | |
hal.structure.identifier | CHU Rouen | |
dc.contributor.author | GOLDENBERG, Alice | |
hal.structure.identifier | CHU Rouen | |
hal.structure.identifier | Université de Rouen Normandie [UNIROUEN] | |
dc.contributor.author | SAUGIER-VEBER, Pascale | |
hal.structure.identifier | CHU Rouen | |
hal.structure.identifier | Université de Rouen Normandie [UNIROUEN] | |
dc.contributor.author | NICOLAS, Gael | |
dc.date.accessioned | 2023-06-08T16:01:48Z | |
dc.date.available | 2023-06-08T16:01:48Z | |
dc.date.issued | 2022-12-01 | |
dc.identifier.issn | 1098-1004 | en_US |
dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/182540 | |
dc.description.abstractEn | Cornelia de Lange syndrome (CdLS; MIM# 122470) is a rare developmental disorder. Pathogenic variants in 5 genes explain approximately 50% cases, leaving the other 50% unsolved. We performed whole genome sequencing (WGS) ± RNA sequencing (RNA-seq) in 5 unsolved trios fulfilling the following criteria: (i) clinical diagnosis of classic CdLS, (ii) negative gene panel sequencing from blood and saliva-isolated DNA, (iii) unaffected parents' DNA samples available and (iv) proband's blood-isolated RNA available. A pathogenic de novo mutation (DNM) was observed in a CdLS differential diagnosis gene in 3/5 patients, namely POU3F3, SPEN, and TAF1. In the other two, we identified two distinct deep intronic DNM in NIPBL predicted to create a novel splice site. RT-PCRs and RNA-Seq showed aberrant transcripts leading to the creation of a novel frameshift exon. Our findings suggest the relevance of WGS in unsolved suspected CdLS cases and that deep intronic variants may account for a proportion of them. | |
dc.language.iso | EN | en_US |
dc.subject | Clustered mutations | |
dc.subject | Cornelia de Lange syndrome | |
dc.subject | Kataegis | |
dc.subject | Neurodevelopmental disorder | |
dc.subject | NIPBL | |
dc.subject | Noncoding sequence | |
dc.subject | Whole genome sequencing | |
dc.title.en | Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. | |
dc.title.alternative | Hum Mutat | en_US |
dc.type | Article de revue | en_US |
dc.identifier.doi | 10.1002/humu.24438 | en_US |
dc.identifier.pubmed | 35842780 | en_US |
bordeaux.journal | Human Mutation | en_US |
bordeaux.page | 1882-1897 | en_US |
bordeaux.volume | 43 | en_US |
bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
bordeaux.issue | 12 | en_US |
bordeaux.institution | Université de Bordeaux | en_US |
bordeaux.institution | INSERM | en_US |
bordeaux.peerReviewed | oui | en_US |
bordeaux.inpress | non | en_US |
bordeaux.import.source | pubmed | |
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dc.rights.cc | Pas de Licence CC | en_US |
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