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

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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

Title: Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease
Author: 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
Contributor organization: Department of Medical and Clinical Genetics
Haartman Institute (-2014)
Medicum
Research Programs Unit
Department of Neurosciences
Clinicum
Neurologian yksikkö
Children's Hospital
Date: 2015-11
Language: eng
Number of pages: 8
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
DOI: https://doi.org/10.1016/j.nmd.2015.07.014
URI: http://hdl.handle.net/10138/159271
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.
Subject: Limb-girdle muscular dystrophy
DNAJB6 gene
Childhood-onset
SEQUENCING DATA
MYOPATHY
VARIANTS
3112 Neurosciences
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: publishedVersion


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