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SOD1-related ALS with anticipation in a large family from Martinique

dc.rights.licenseopenen_US
dc.contributor.authorGIGUET-VALARD, Anna-Gaelle
dc.contributor.authorBELLANCE, Remi
dc.contributor.authorJEANNIN, Severine
dc.contributor.authorDUCLOS, Sophie
dc.contributor.authorOLIVE, Pascale
dc.contributor.authorALLARD-SAINT-ALBIN, Oriane
dc.contributor.authorCAZENEUVE, Cecile
dc.contributor.authorCLOT, Fabienne
dc.contributor.authorPITTION-VOUYOVITCH, Sophie
dc.contributor.authorBARNETCHE, Thomas
dc.contributor.authorSMITH-RAVIN, Juliette
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorGOIZET, Cyril
dc.date.accessioned2021-10-26T15:34:58Z
dc.date.available2021-10-26T15:34:58Z
dc.date.issued2021-03-23
dc.identifier.issn2167-9223 2167-8421en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117087
dc.description.abstractEnAmyotrophic Lateral Sclerosis (ALS) is a rare neurological disorder that causes degeneration of upper and lower motor neurons and their axons. ALS is mostly sporadic, but there are familial forms. In more than half of the familial forms, a pathogenic variant is found in one of the following genes: C9ORF72, SOD1, TDP-43, FUS, and VCP. SOD1 is the 2nd most common gene involved in genetic forms of ALS. Genotype-phenotype relationships are occasionally established in genetic forms of ALS associated with SOD1 mutations pathogenic variants. The c.281G > T (p.[G93V]) variant in SOD1 is associated with a rarely described and unexplained anticipation phenomenon. We report a large family from Martinique in whom ALS is associated with a c.281G > T (p.[G93V]) pathogenic variant in SOD1 and a statistically suggested anticipation. A whole-exome study and detection of CNVs (CoDESeq) from 3 affected members of this family revealed the presence of variants of uncertain signification (VUS) in other ALS genes. VUS in DCTN1 and NEFH were present in patients of the 2nd generation, and CNVs involving UBQLN2 and C21orf2 were found in the youngest case of the family.
dc.description.sponsorshipEGID Diabetes Pole - ANR-10-LABX-0046en_US
dc.description.sponsorshipPlate forme Lilloise de séquençage du génome humain pour une médecine personnalisée - ANR-10-EQPX-0007en_US
dc.language.isoENen_US
dc.subject.enAnticipation
dc.subject.enCoDE-Seq method
dc.subject.enGenetic Amyotrophic Lateral Sclerosis
dc.subject.enNext Generation Sequencing
dc.title.enSOD1-related ALS with anticipation in a large family from Martinique
dc.typeArticle de revueen_US
dc.identifier.doi10.1080/21678421.2021.1900870en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
dc.identifier.pubmed33754899en_US
bordeaux.journalAmyotrophic Lateral Sclerosis and Frontotemporal Degenerationen_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
bordeaux.identifier.funderIDAgence Nationale de la Rechercheen_US
bordeaux.identifier.funderIDRégion Hauts-de-Franceen_US
hal.identifierhal-03404622
hal.version1
hal.date.transferred2021-10-26T15:35:06Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
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