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Severe phenotype in patients with large deletions of NF1

dc.rights.licenseopenen_US
dc.contributor.authorPACOT, Laurence
dc.contributor.authorVIDAUD, Dominique
dc.contributor.authorSABBAGH, Audrey
dc.contributor.authorLAURENDEAU, Ingrid
dc.contributor.authorBRIAND-SULEAU, Audrey
dc.contributor.authorCOUSTIER, Audrey
dc.contributor.authorMAILLARD, Theodora
dc.contributor.authorBARBANCE, Cecile
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMORICE-PICARD, Fanny
dc.contributor.authorSIGAUDY, Sabine
dc.contributor.authorGLAZUNOVA, Olga O.
dc.contributor.authorDAMAJ, Lena
dc.contributor.authorLAYET, Valerie
dc.contributor.authorQUELIN, Chloe
dc.contributor.authorGILBERT-DUSSARDIER, Brigitte
dc.contributor.authorAUDIC, Frederique
dc.contributor.authorDOLLFUS, Helene
dc.contributor.authorGUERROT, Anne-Marie
dc.contributor.authorLESPINASSE, James
dc.contributor.authorJULIA, Sophie
dc.contributor.authorVANTYGHEM, Marie-Christine
dc.contributor.authorDROUARD, Marie-Christine
dc.contributor.authorLACKMY, Marylin
dc.contributor.authorLEHEUP, Bruno
dc.contributor.authorALEMBIK, Yves
dc.contributor.authorLEMAIRE, Alexia
dc.contributor.authorNITSCHKE, Patrick
dc.contributor.authorPETIT, Florence
dc.contributor.authorDIEUX COESLIER, Anne
dc.contributor.authorMUTEZ, Eugenie
dc.contributor.authorTAIEB, Alain
dc.contributor.authorFRADIN, Melanie
dc.contributor.authorCAPRI, Yline
dc.contributor.authorNASSER, Hala
dc.contributor.authorRUAUD, Lyse
dc.contributor.authorDAURIAT, Benjamin
dc.contributor.authorBOURTHOUMIEU, Sylvie
dc.contributor.authorGENEVIEVE, David
dc.contributor.authorAUDEBERT-BELLANGER, Severine
dc.contributor.authorNIZON, Mathilde
dc.contributor.authorSTOEVA, Radka
dc.contributor.authorHICKMAN, Geoffroy
dc.contributor.authorNICOLAS, Gael
dc.contributor.authorMAZEREEUW-HAUTIER, Juliette
dc.contributor.authorJANNIC, Arnaud
dc.contributor.authorFERKAL, Salah
dc.contributor.authorPARFAIT, Beatrice
dc.contributor.authorVIDAUD, Michel
dc.contributor.authorWOLKENSTEIN, Pierre
dc.contributor.authorPASMANT, Eric
dc.date.accessioned2021-10-26T10:00:09Z
dc.date.available2021-10-26T10:00:09Z
dc.date.issued2021-06-13
dc.identifier.issn2072-6694en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112882
dc.description.abstractEnComplete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients.
dc.language.isoENen_US
dc.rightsAttribution 3.0 United States*
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/us/*
dc.subject.enCardiovascular abnormalities
dc.subject.enDysmorphism
dc.subject.enGenotype-phenotype correlation
dc.subject.enLearning disabilities
dc.subject.enMalignant peripheral nerve sheath tumors
dc.subject.enMPNSTs
dc.subject.enNeurofi-bromas
dc.subject.enNeurofibromatosis type 1
dc.subject.enNF1
dc.subject.enNF1 deletion
dc.subject.enNFs
dc.subject.enSkeletal abnormalities
dc.subject.enTumor predisposition
dc.title.enSevere phenotype in patients with large deletions of NF1
dc.typeArticle de revueen_US
dc.identifier.doi10.3390/cancers13122963en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed34199217en_US
bordeaux.journalCancersen_US
bordeaux.volume13en_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
hal.identifierhal-03403724
hal.version1
hal.date.transferred2021-10-26T10:00:19Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Cancers&rft.date=2021-06-13&rft.volume=13&rft.issue=12&rft.eissn=2072-6694&rft.issn=2072-6694&rft.au=PACOT,%20Laurence&VIDAUD,%20Dominique&SABBAGH,%20Audrey&LAURENDEAU,%20Ingrid&BRIAND-SULEAU,%20Audrey&rft.genre=article


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