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dc.contributor.authorBourinaris, Thomas
dc.contributor.authorSmedley, Damian
dc.contributor.authorCipriani, Valentina
dc.contributor.authorSheikh, Isabella
dc.contributor.authorAthanasiou-Fragkouli, Alkyoni
dc.contributor.authorChinnery, Patrick
dc.contributor.authorMorris, Huw
dc.contributor.authorReal, Raquel
dc.contributor.authorHarrison, Victoria
dc.contributor.authorReid, Evan
dc.contributor.authorWood, Nicholas
dc.contributor.authorGenomics England Research Consortium
dc.contributor.authorVandrovcova, Jana
dc.contributor.authorHoulden, Henry
dc.contributor.authorTucci, Arianna
dc.date.accessioned2021-09-15T15:23:37Z
dc.date.available2021-09-15T15:23:37Z
dc.date.issued2020-12
dc.date.submitted2020-01-17
dc.identifier.issn1018-4813
dc.identifier.others41431-020-00720-w
dc.identifier.other720
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/328072
dc.description.abstractHereditary spastic paraplegia (HSP) is a group of heterogeneous inherited degenerative disorders characterized by lower limb spasticity. Fifty percent of HSP patients remain yet genetically undiagnosed. The 100,000 Genomes Project (100KGP) is a large UK-wide initiative to provide genetic diagnosis to previously undiagnosed patients and families with rare conditions. Over 400 HSP families were recruited to the 100KGP. In order to obtain genetic diagnoses, gene-based burden testing was carried out for rare, predicted pathogenic variants using candidate variants from the Exomiser analysis of the genome sequencing data. A significant gene-disease association was identified for UBAP1 and HSP. Three protein truncating variants were identified in 13 patients from 7 families. All patients presented with juvenile form of pure HSP, with median age at onset 10 years, showing autosomal dominant inheritance or de novo occurrence. Additional clinical features included parkinsonism and learning difficulties, but their association with UBAP1 needs to be established.
dc.languageen
dc.publisherSpringer Science and Business Media LLC
dc.subjectBrief Communication
dc.subject/692/308/2056
dc.subject/692/699/375
dc.subject/45/23
dc.subject/45/77
dc.subject/82/1
dc.subjectbrief-communication
dc.titleIdentification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
dc.typeArticle
dc.date.updated2021-09-15T15:23:36Z
prism.endingPage1768
prism.issueIdentifier12
prism.publicationNameEur J Hum Genet
prism.startingPage1763
prism.volume28
dc.identifier.doi10.17863/CAM.75529
dcterms.dateAccepted2020-08-15
rioxxterms.versionofrecord10.1038/s41431-020-00720-w
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidSmedley, Damian [0000-0002-5836-9850]
dc.contributor.orcidSheikh, Isabella [0000-0002-3952-371X]
dc.contributor.orcidChinnery, Patrick [0000-0002-7065-6617]
dc.contributor.orcidMorris, Huw [0000-0002-5473-3774]
dc.contributor.orcidReal, Raquel [0000-0001-8117-742X]
dc.contributor.orcidReid, Evan [0000-0003-1623-7304]
dc.contributor.orcidHoulden, Henry [0000-0002-2866-7777]
dc.contributor.orcidTucci, Arianna [0000-0001-5644-0070]
dc.identifier.eissn1476-5438
cam.issuedOnline2020-09-15


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