Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease

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dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Research Programs Unit en
dc.contributor University of Helsinki, Neurologian yksikkö en
dc.contributor University of Helsinki, Clinicum en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor University of Helsinki, Department of Medical and Clinical Genetics en
dc.contributor.author Palmio, Johanna
dc.contributor.author Jonson, Per Harald
dc.contributor.author Evilä, Anni
dc.contributor.author Auranen, Mari
dc.contributor.author Straub, Volker
dc.contributor.author Bushby, Kate
dc.contributor.author Sarkozy, Anna
dc.contributor.author Kiuru-Enari, Sari
dc.contributor.author Sandell, Satu
dc.contributor.author Pihko, Helena
dc.contributor.author Hackman, Peter
dc.contributor.author Udd, Bjarne
dc.date.accessioned 2015-12-22T11:18:01Z
dc.date.available 2015-12-22T11:18:01Z
dc.date.issued 2015-11
dc.identifier.citation Palmio , J , Jonson , P H , Evilä , A , Auranen , M , Straub , V , Bushby , K , Sarkozy , A , Kiuru-Enari , S , Sandell , S , Pihko , H , Hackman , P & Udd , B 2015 , ' Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease ' , Neuromuscular Disorders , vol. 25 , no. 11 , pp. 835-842 . https://doi.org/10.1016/j.nmd.2015.07.014 en
dc.identifier.issn 0960-8966
dc.identifier.other PURE: 57561388
dc.identifier.other PURE UUID: 0c158bb8-3ce5-4fcb-a5f2-cdcf950e2e0d
dc.identifier.other WOS: 000365362200002
dc.identifier.other Scopus: 84945438628
dc.identifier.uri http://hdl.handle.net/10138/159271
dc.description.abstract DNAJB6 is the causative gene for limb-girdle muscular dystrophy 1D (LGMD1D). Four different coding missense mutations, p.F89I, p.F93I, p.F93L, and p.P96R, have been reported in families from Europe, North America and Asia. The previously known mutations cause mainly adult-onset proximal muscle weakness with moderate progression and without respiratory involvement. A Finnish family and a British patient have been studied extensively due to a severe muscular dystrophy. The patients had childhood-onset LGMD, loss of ambulation in early adulthood and respiratory involvement; one patient died of respiratory failure aged 32. Two novel mutations, c.271T > A (p.F91I) and c.271T > C (p.F91L), in DNAJB6 were identified by whole exome sequencing as a cause of this severe form of LGMD1D. The results were confirmed by Sanger sequencing. The anti-aggregation effect of the mutant DNAJB6 was investigated in a filter-trap based system using transient transfection of mammalian cell lines and polyQ-huntingtin as a model for an aggregation-prone protein. Both novel mutant proteins show a significant loss of ability to prevent aggregation. (C) 2015 Elsevier B.V. All rights reserved. en
dc.format.extent 8
dc.language.iso eng
dc.relation.ispartof Neuromuscular Disorders
dc.rights en
dc.subject Limb-girdle muscular dystrophy en
dc.subject DNAJB6 gene en
dc.subject Childhood-onset en
dc.subject SEQUENCING DATA en
dc.subject MYOPATHY en
dc.subject VARIANTS en
dc.subject 3112 Neurosciences en
dc.title Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease en
dc.type Article
dc.description.version Peer reviewed
dc.identifier.doi https://doi.org/10.1016/j.nmd.2015.07.014
dc.type.uri info:eu-repo/semantics/other
dc.type.uri info:eu-repo/semantics/publishedVersion
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