A novel <i><scp>DNAJB6</scp></i> mutation causes dominantly inherited distal‐onset myopathy and compromises <scp>DNAJB6</scp> function

Tsai, Pei‐Chien; Tsai, Yu‐Shuen; Soong, Bing‐Wen; Huang, Yen‐Hua; Wu, Hung-Ta Hondar; Chen, Ying‐Hao; Lin, Kon‐Ping; Liao, Yi‐Chu; Lee, Yi‐Chung

doi:10.1111/cge.13001

Cited by 17 publications

(17 citation statements)

References 29 publications

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“…LGMD [89] c.287C>G p.P96R distal-proximal [86] c.287C>T p.P96L [100][101][102] c.293_295delATG p.D98del distal [89] c.298T>A p.F100I [103] c.298C>A p.F100V distal onset [88] c.346+5G>A p.G79_F115del severe, early onset [88] Reference sequences: NM_058246.4 (nucleotide), NP_490647.1 (protein).…”

Section: Pf93lmentioning

confidence: 99%

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Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

Sarparanta

Jonson

Kawan

et al. 2020

IJMS

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Skeletal muscle and the nervous system depend on efficient protein quality control, and they express chaperones and cochaperones at high levels to maintain protein homeostasis. Mutations in many of these proteins cause neuromuscular diseases, myopathies, and hereditary motor and sensorimotor neuropathies. In this review, we cover mutations in DNAJB6, DNAJB2, αB-crystallin (CRYAB, HSPB5), HSPB1, HSPB3, HSPB8, and BAG3, and discuss the molecular mechanisms by which they cause neuromuscular disease. In addition, previously unpublished results are presented, showing downstream effects of BAG3 p.P209L on DNAJB6 turnover and localization.

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Section: Pf93lmentioning

confidence: 99%

“…Dysphagia has been reported with several mutations [88][89][90]94,95,97,[101][102][103]. Respiratory involvement is rare, but patients with the severe p.F91I and p.F91L mutations had respiratory failure requiring mechanical ventilation [95].…”

Section: Clinical and Pathological Featuresmentioning

confidence: 99%

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

Sarparanta

Jonson

Kawan

et al. 2020

IJMS

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“…A), are those due to mutations in dysferlin ( DYSF ) (also called Myoshi myopathy) and anoctamin‐5 ( ANO5 ) . Also mutations in DNAJB6 initially affect the posterior compartment leg muscles; relative sparing of the tibialis anterior can be observed even in the setting of severe distal weakness . AD mutations in myotilin ( MYOT ) manifest clinically with foot drop or calf muscle weakness, but calf muscle involvement seems to occur first and can be documented radiologically, although it may not cause functional deficits until the anterior leg muscles become weak .…”

Section: Clinical Features and Underlying Gene Defectmentioning

confidence: 99%

The unfolding spectrum of inherited distal myopathies

Milone

Liewluck

2018

Muscle and Nerve

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Distal myopathies are a group of rare muscle diseases characterized by distal weakness at onset. Although acquired myopathies can occasionally present with distal weakness, the majority of distal myopathies have a genetic etiology. Their age of onset varies from early-childhood to late-adulthood while the predominant muscle weakness can affect calf, ankle dorsiflexor, or distal upper limb muscles. A spectrum of muscle pathological changes, varying from nonspecific myopathic changes to rimmed vacuoles to myofibrillar pathology to nuclei centralization, have been noted. Likewise, the underlying molecular defect is heterogeneous. In addition, there is emerging evidence that distal myopathies can result from defective proteins encoded by genes causative of neurogenic disorders, be manifestation of multisystem proteinopathies or the result of the altered interplay between different genes. In this review, we provide an overview on the clinical, electrophysiological, pathological, and molecular aspects of distal myopathies, focusing on the most recent developments in the field. Muscle Nerve, 2018.

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“…The first French families with DNAJB6 mutations are presented. DNAJB6 mutations were first related to LGMD1D, but this and other recent studies have shown a wider phenotype and variable severity compared to the most frequent mutation, p.Phe93Leu [1][2][3][4][5][6]8,[13][14][15].…”

Section: Discussionmentioning

confidence: 81%

“…Autosomal dominant limb girdle muscular dystrophy type 1D (LGMD1D, OMIM 603511) caused by DNAJB6 mutations [1,2] has so far been identified in Europe [1,3,4], Asia [5][6][7][8] and the USA [1,2,9,10]. All reported mutations affect DNAJB6's G/F domain, encoded by exon 5.…”

Section: Introductionmentioning

confidence: 99%

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

Jonson

Palmio

Johari

et al. 2018

Euro J of Neurology

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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.

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A novel DNAJB6 mutation causes dominantly inherited distal‐onset myopathy and compromises DNAJB6 function

Abstract: This study expands the molecular spectrum of DNAJB6 mutations and also emphasizes the pathogenic role of DNAJB6 dysfunction in distal-onset myopathy.

Cited by 17 publications

References 29 publications

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results

The unfolding spectrum of inherited distal myopathies

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

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