Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

doi:10.1136/jnnp-2017-315929

. 2018 Mar;89(3):313-315.

doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Michael Shy¹, Adriana P Rebelo², Shawna Me Feely¹, Lisa A Abreu², Feifei Tao², Andrea Swenson¹, Chelsea Bacon¹, Stephan Zuchner²

Affiliations

¹ Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
² Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

PMID: 28754666
PMCID: PMC6152909
DOI: 10.1136/jnnp-2017-315929

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Michael Shy et al. J Neurol Neurosurg Psychiatry. 2018 Mar.

. 2018 Mar;89(3):313-315.

doi: 10.1136/jnnp-2017-315929. Epub 2017 Jul 28.

Authors

Michael Shy¹, Adriana P Rebelo², Shawna Me Feely¹, Lisa A Abreu², Feifei Tao², Andrea Swenson¹, Chelsea Bacon¹, Stephan Zuchner²

Affiliations

¹ Department of Neurology, University of Iowa, Iowa City, Iowa, USA.
² Department of Human Genetics and Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, Florida, USA.

PMID: 28754666
PMCID: PMC6152909
DOI: 10.1136/jnnp-2017-315929

No abstract available

Keywords: Genetics; Hmsn (charcot-marie-tooth).

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Conflict of interest statement

Competing interests: None declared.

Figures

**Figure 1:. Bag3 mutation in CMT2 families.**
A. Segregation of the P209S variant in two autosomal dominant CMT2 families. B. Diagram depicts position of pathogenic variants (arrow heads) in the BAG3 protein. The IPV (Ile-Pro-Val) motifs are highlighted in pink and the protein domains are represented by the colored boxes (PXXP: proline-rich repeat region, WW (Trp-Trp) region).

See this image and copyright information in PMC

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References

1. Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Annals of neurology. 2009;65(1):83–9. - PMC - PubMed
1. Homma S, Iwasaki M, Shelton GD, Engvall E, Reed JC, Takayama S. BAG3 deficiency results in fulminant myopathy and early lethality. The American journal of pathology. 2006;169(3):761–73. - PMC - PubMed
1. Semmler AL, Sacconi S, Bach JE, Liebe C, Burmann J, Kley RA, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet journal of rare diseases. 2014;9:121. - PMC - PubMed
1. Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, et al. BAG3 mutations: another cause of giant axonal neuropathy. Journal of the peripheral nervous system : JPNS. 2012;17(2):210–6. - PubMed
1. Takayama S, Xie Z, Reed JC. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. The Journal of biological chemistry. 1999;274(2):781–6. - PubMed

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[1] Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Annals of neurology. 2009;65(1):83–9. - PMC - PubMed

[2] Selcen D, Muntoni F, Burton BK, Pegoraro E, Sewry C, Bite AV, et al. Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Annals of neurology. 2009;65(1):83–9. - PMC - PubMed

[3] Homma S, Iwasaki M, Shelton GD, Engvall E, Reed JC, Takayama S. BAG3 deficiency results in fulminant myopathy and early lethality. The American journal of pathology. 2006;169(3):761–73. - PMC - PubMed

[4] Homma S, Iwasaki M, Shelton GD, Engvall E, Reed JC, Takayama S. BAG3 deficiency results in fulminant myopathy and early lethality. The American journal of pathology. 2006;169(3):761–73. - PMC - PubMed

[5] Semmler AL, Sacconi S, Bach JE, Liebe C, Burmann J, Kley RA, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet journal of rare diseases. 2014;9:121. - PMC - PubMed

[6] Semmler AL, Sacconi S, Bach JE, Liebe C, Burmann J, Kley RA, et al. Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies. Orphanet journal of rare diseases. 2014;9:121. - PMC - PubMed

[7] Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, et al. BAG3 mutations: another cause of giant axonal neuropathy. Journal of the peripheral nervous system : JPNS. 2012;17(2):210–6. - PubMed

[8] Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, et al. BAG3 mutations: another cause of giant axonal neuropathy. Journal of the peripheral nervous system : JPNS. 2012;17(2):210–6. - PubMed

[9] Takayama S, Xie Z, Reed JC. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. The Journal of biological chemistry. 1999;274(2):781–6. - PubMed

[10] Takayama S, Xie Z, Reed JC. An evolutionarily conserved family of Hsp70/Hsc70 molecular chaperone regulators. The Journal of biological chemistry. 1999;274(2):781–6. - PubMed

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Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

Affiliations

Mutations in BAG3 cause adult-onset Charcot-Marie-Tooth disease

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