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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.

dc.rights.licenseopenen_US
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorCOURSIMAULT, Juliette
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorCASSINARI, Kevin
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorLECOQUIERRE, François
hal.structure.identifierService de neurologie [Rouen]
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorQUENEZ, Olivier
hal.structure.identifierCHU Rouen
hal.structure.identifierService de Génétique [CHU Rouen]
dc.contributor.authorCOUTANT, Sophie
hal.structure.identifierService de Génétique [CHU Rouen]
dc.contributor.authorDERAMBURE, Celine
hal.structure.identifierService de Génétique [CHU Rouen]
dc.contributor.authorVEZAIN, Myriam
hal.structure.identifierService de génétique [Rouen]
hal.structure.identifierCHU Rouen
dc.contributor.authorDROUOT, Nathalie
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorVERA, Gabriella
hal.structure.identifierLaboratoire de Génétique Médicale [LGM]
dc.contributor.authorSCHAEFER, Elise
hal.structure.identifierHôpital de Hautepierre [Strasbourg]
dc.contributor.authorPHILIPPE, Anais
hal.structure.identifierService de génétique médicale
dc.contributor.authorDORAY, Benerice
hal.structure.identifierService de Génétique Clinique [CHRU Nancy]
dc.contributor.authorLAMBERT, Laetitia
hal.structure.identifierMaladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
dc.contributor.authorGHOUMID, Jamal
hal.structure.identifierMaladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME]
dc.contributor.authorSMOL, Thomas
hal.structure.identifierService de Génétique Médicale [Lille]
dc.contributor.authorRAMA, Melanie
hal.structure.identifierService de génétique médicale
hal.structure.identifierCHU Bordeaux
dc.contributor.authorLEGENDRE, Marine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorLACOMBE, Didier
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorFERGELOT, Patricia
hal.structure.identifierCentre National de Recherche en Génomique Humaine [CNRGH]
dc.contributor.authorOLASO, Robert
hal.structure.identifierCentre National de Recherche en Génomique Humaine [CNRGH]
dc.contributor.authorBOLAND, Anne
hal.structure.identifierCentre National de Recherche en Génomique Humaine [CNRGH]
dc.contributor.authorDELEUZE, Jean-Francois
hal.structure.identifierUNIROUEN - UFR Santé [UNIROUEN UFR Santé]
hal.structure.identifierCHU Rouen
dc.contributor.authorGOLDENBERG, Alice
hal.structure.identifierCHU Rouen
hal.structure.identifierUniversité de Rouen Normandie [UNIROUEN]
dc.contributor.authorSAUGIER-VEBER, Pascale
hal.structure.identifierCHU Rouen
hal.structure.identifierUniversité de Rouen Normandie [UNIROUEN]
dc.contributor.authorNICOLAS, Gael
dc.date.accessioned2023-06-08T16:01:48Z
dc.date.available2023-06-08T16:01:48Z
dc.date.issued2022-12-01
dc.identifier.issn1098-1004en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/182540
dc.description.abstractEnCornelia 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.isoENen_US
dc.subjectClustered mutations
dc.subjectCornelia de Lange syndrome
dc.subjectKataegis
dc.subjectNeurodevelopmental disorder
dc.subjectNIPBL
dc.subjectNoncoding sequence
dc.subjectWhole genome sequencing
dc.title.enDeep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
dc.title.alternativeHum Mutaten_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1002/humu.24438en_US
dc.identifier.pubmed35842780en_US
bordeaux.journalHuman Mutationen_US
bordeaux.page1882-1897en_US
bordeaux.volume43en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue12en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
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