Evidence of mosaicism in SPAST variant carriers in four French families
| dc.rights.license | open | en_US |
| dc.contributor.author | ANGELINI, Chloe | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | GOIZET, Cyril | |
| dc.contributor.author | AIT SAID, Samia | |
| dc.contributor.author | CAMU, William | |
| dc.contributor.author | DEPIENNE, Christel | |
| dc.contributor.author | HERON, Benedicte | |
| dc.contributor.author | KOL, Bophara | |
| dc.contributor.author | GUILLAUD-BATAILLE, Marine | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | PENNAMEN, Perrine | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ROORYCK-THAMBO, Caroline | |
| dc.contributor.author | SCHERER-GAGOU, Clarisse | |
| dc.contributor.author | TISSIER, Laurene | |
| dc.contributor.author | STEVANIN, Giovanni | |
| dc.contributor.author | LEGUERN, Eric | |
| dc.contributor.author | BANNEAU, Guillaume | |
| dc.date.accessioned | 2021-10-26T09:55:52Z | |
| dc.date.available | 2021-10-26T09:55:52Z | |
| dc.date.issued | 2021-05-06 | |
| dc.identifier.issn | 1476-5438 (online) 1018-4813 (print) | en_US |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/112881 | |
| dc.description.abstractEn | Hereditary 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.iso | EN | en_US |
| dc.title.en | Evidence of mosaicism in SPAST variant carriers in four French families | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1038/s41431-021-00847-4 | en_US |
| dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | en_US |
| dc.identifier.pubmed | 3395874 | en_US |
| bordeaux.journal | European Journal of Human Genetics | en_US |
| bordeaux.page | 1158-1163 | en_US |
| bordeaux.volume | 29 | en_US |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 7 | en_US |
| bordeaux.institution | Université de Bordeaux | en_US |
| bordeaux.institution | INSERM | en_US |
| bordeaux.peerReviewed | oui | en_US |
| bordeaux.inpress | non | en_US |
| hal.identifier | hal-03403700 | |
| hal.version | 1 | |
| hal.date.transferred | 2021-10-26T09:55:59Z | |
| 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=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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