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

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http://hdl.handle.net/10138/159271

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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

Titel: Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
Författare: Palmio, Johanna; Jonson, Per Harald; Evilä, Anni; Auranen, Mari; Straub, Volker; Bushby, Kate; Sarkozy, Anna; Kiuru-Enari, Sari; Sandell, Satu; Pihko, Helena; Hackman, Peter; Udd, Bjarne
Medarbetare: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Research Programs Unit
University of Helsinki, Neurologian yksikkö
University of Helsinki, Clinicum
University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Department of Medical and Clinical Genetics
Datum: 2015-11
Språk: eng
Sidantal: 8
Tillhör serie: Neuromuscular Disorders
ISSN: 0960-8966
Permanenta länken (URI): http://hdl.handle.net/10138/159271
Abstrakt: 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.
Subject: Limb-girdle muscular dystrophy
DNAJB6 gene
Childhood-onset
SEQUENCING DATA
MYOPATHY
VARIANTS
3112 Neurosciences
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