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Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Eur J Neurol. 2018 Feb 13;:

Authors: Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B

Abstract
BACKGROUND AND PURPOSE: To determine the genetic background of unknown muscular dystrophy in five French families.
METHODS: Twelve patients with limb girdle muscular dystrophy or distal myopathy were clinically evaluated. Gene mutations were identified using targeted exon sequencing and mutated DNAJB6 was tested in vitro.
RESULTS: Five patients presented with distal lower limb weakness while others had proximal presentation with variable rate of progression starting at the median age of 34.6 years. Two novel mutations (c.284A>T, p.Asn95Ile, 2 families and c.293_295delATG, p.Asp98del, 1 family) as well as the previously reported c.279C>G (p.Phe93Leu, 2 families) mutation in DNAJB6 were identified. All showed a reduced capacity to prevent protein aggregation.
CONCLUSIONS: The mutational and phenotypical spectrum of DNAJB6-caused muscle disease is larger than previously reported, including also dysphagia. The originally reported c.279C>G (p.Phe93Leu) mutation is now identified in four different populations and appears to be a mutational hotspot. Our report confirms that some DNAJB6 mutations cause distal-onset myopathy and hence DNAJB6 defects should be considered broadly in dominant muscular dystrophy families. This article is protected by copyright. All rights reserved.

PMID: 29437287 [PubMed - as supplied by publisher]