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dc.rights.licenseopenen_US
dc.contributor.authorANGELINI, Chloe
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
dc.contributor.authorAIT SAID, Samia
dc.contributor.authorCAMU, William
dc.contributor.authorDEPIENNE, Christel
dc.contributor.authorHERON, Benedicte
dc.contributor.authorKOL, Bophara
dc.contributor.authorGUILLAUD-BATAILLE, Marine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorPENNAMEN, Perrine
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorROORYCK-THAMBO, Caroline
dc.contributor.authorSCHERER-GAGOU, Clarisse
dc.contributor.authorTISSIER, Laurene
dc.contributor.authorSTEVANIN, Giovanni
dc.contributor.authorLEGUERN, Eric
dc.contributor.authorBANNEAU, Guillaume
dc.date.accessioned2021-10-26T09:55:52Z
dc.date.available2021-10-26T09:55:52Z
dc.date.issued2021-05-06
dc.identifier.issn1476-5438 (online) 1018-4813 (print)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/112881
dc.description.abstractEnHereditary spastic paraplegias (HSP) are heterogeneous disorders, with more than 70 causative genes. Variants in SPAST are the most frequent genetic etiology and are responsible for spastic paraplegia type 4 (SPG4). Age at onset can vary, even between patients from the same family, and incomplete penetrance is described. Somatic mosaicism is extremely rare with only three patients reported in the literature. We report here SPAST mosaic variants in four unrelated patients. We confirm that mosaicism in SPAST is a very rare event with only four identified cases on more than 300 patients with a SPAST variant previously described by our clinical diagnostic laboratory.
dc.language.isoENen_US
dc.title.enEvidence of mosaicism in SPAST variant carriers in four French families
dc.typeArticle de revueen_US
dc.identifier.doi10.1038/s41431-021-00847-4en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed3395874en_US
bordeaux.journalEuropean Journal of Human Geneticsen_US
bordeaux.page1158-1163en_US
bordeaux.volume29en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue7en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03403700
hal.version1
hal.date.transferred2021-10-26T09:55:59Z
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=European%20Journal%20of%20Human%20Genetics&rft.date=2021-05-06&rft.volume=29&rft.issue=7&rft.spage=1158-1163&rft.epage=1158-1163&rft.eissn=1476-5438%20(online)%201018-4813%20(print)&rft.issn=1476-5438%20(online)%201018-4813%20(print)&rft.au=ANGELINI,%20Chloe&GOIZET,%20Cyril&AIT%20SAID,%20Samia&CAMU,%20William&DEPIENNE,%20Christel&rft.genre=article


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