Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype

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dc.contributor.author Knuutinen, Oula
dc.contributor.author Pyle, Angela
dc.contributor.author Suo-Palosaari, Maria
dc.contributor.author Duff, Jennifer
dc.contributor.author Froukh, Tawfiq
dc.contributor.author Lehesjoki, Anna-Elina
dc.contributor.author Kangas, Salla M.
dc.contributor.author Cassidy, James
dc.contributor.author Maraqa, Latifa
dc.contributor.author Keski-Filppula, Riikka
dc.contributor.author Kokkonen, Hannaleena
dc.contributor.author Uusimaa, Johanna
dc.contributor.author Horvath, Rita
dc.contributor.author Vieira, Päivi
dc.date.accessioned 2021-08-09T22:46:07Z
dc.date.available 2021-12-18T03:46:02Z
dc.date.issued 2020-11
dc.identifier.citation Knuutinen , O , Pyle , A , Suo-Palosaari , M , Duff , J , Froukh , T , Lehesjoki , A-E , Kangas , S M , Cassidy , J , Maraqa , L , Keski-Filppula , R , Kokkonen , H , Uusimaa , J , Horvath , R & Vieira , P 2020 , ' Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype ' , Clinical Genetics , vol. 98 , no. 5 , pp. 493-498 . https://doi.org/10.1111/cge.13827
dc.identifier.other PURE: 145327488
dc.identifier.other PURE UUID: 525c869b-9073-4fba-a7a5-6d6d22d785f4
dc.identifier.other WOS: 000563927200001
dc.identifier.uri http://hdl.handle.net/10138/332971
dc.description.abstract TATA-box binding protein associated factor, RNA polymerase I subunit C (TAF1C) is a component of selectivity factor 1 belonging to RNA polymerase I (Pol I) transcription machinery. We report two unrelated patients with homozygousTAF1Cmissense variants and an early onset neurological phenotype with severe global developmental delay. Clinical features included lack of speech and ambulation and epilepsy. MRI of the brain demonstrated widespread cerebral atrophy and frontal periventricular white matter hyperintensity. The phenotype resembled that of a previously described variant ofUBTF, which encodes another transcription factor of Pol I.TAF1Cvariants were located in two conserved amino acid positions and were predicted to be deleterious. In patient-derived fibroblasts,TAF1CmRNA and protein expression levels were substantially reduced compared with healthy controls. We propose that the variants impairingTAF1Cexpression are likely pathogenic and relate to a novel neurological disease. This study expands the disease spectrum related to Pol I transcription machinery, associating theTAF1Cmissense variants with a severe neurological phenotype for the first time. en
dc.format.extent 6
dc.language.iso eng
dc.relation.ispartof Clinical Genetics
dc.rights.uri info:eu-repo/semantics/openAccess
dc.subject brain atrophy
dc.subject infantile spasms
dc.subject Pol I transcription initiation complex proteins
dc.subject TATA-binding protein associated factors
dc.subject PROTEIN
dc.subject 3111 Biomedicine
dc.subject 1184 Genetics, developmental biology, physiology
dc.title Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype en
dc.type Article
dc.contributor.organization University of Helsinki
dc.contributor.organization Medicum
dc.description.reviewstatus Peer reviewed
dc.relation.doi https://doi.org/10.1111/cge.13827
dc.relation.issn 0009-9163
dc.rights.accesslevel openAccess
dc.type.version acceptedVersion

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