Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C (original) (raw)

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Acknowledgements

We are grateful to the subjects and their families for participating in this study. We thank J. Kissel for discussions regarding clinical evaluation of family 1, A. LaPean for aid in subject characterization, M. K. Floeter and T. Lehky for performing neurophysiological studies, R. R. Wang for crystallization and X-ray data collection, J. Hardy for helpful discussion regarding genetic analysis, A. Singleton and D. Hernandez for help with SNP array analysis, the NINDS DNA sequencing facility for help with sequencing, the Maryland Brain and Tissue Bank for providing human spinal cord and tracheal tissues, M. Suzuki for Trpv4 knockout mice, R. Tsien for providing the fluorescent protein mCherry, A. Hoke for providing DRG cells, J. Griffin for aid in nerve pathology evaluation, S. Heller for providing antibody to TRPV4, T. Jentsch for cells and instruments, C. Rojas and J. Alt for help with FLIPR, S. Minogue for assistance in confocal imaging, M.A. Valverde for providing human TRPV4 expression constructs and M. Plomann for providing PACSIN expression constructs and antibodies. This work was supported by intramural funds from the NINDS at NIH, funds from the Johns Hopkins Department of Neurology and the David and Elaine Potter Charitable Foundation, and NIH grant R01GM081340 and a McKnight Scholar Award to R.G.

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Author notes

1. Guida Landouré and Anselm A Zdebik: These authors contributed equally to this work.
2. Robert Kleta, Kenneth H Fischbeck and Charlotte J Sumner: These authors jointly directed the project.

Authors and Affiliations

1. Department of Medicine, University College London, London, UK
   Guida Landouré, Anselm A Zdebik, Horia C Stanescu & Robert Kleta
2. Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK
   Guida Landouré, Anselm A Zdebik, Horia C Stanescu & Robert Kleta
3. Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), Bethesda, Maryland, USA
   Guida Landouré, Barrington G Burnett, Yijun Shi, Addis A Taye & Kenneth H Fischbeck
4. Service de Neurologie, Centre Hospitalo-Universitaire du Point 'G', Université de Bamako, Bamako, Mali
   Guida Landouré
5. Department of Neurology, Johns Hopkins University, Baltimore, Maryland, USA
   Tara L Martinez, Lingling Kong & Charlotte J Sumner
6. W. Harry Feinstone Department of Molecular Microbiology and Immunology, Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland, USA
   Tara L Martinez
7. Department of Molecular and Cellular Biology, Harvard University, Cambridge, Massachusetts, USA
   Hitoshi Inada, Shelly S Choo, Christopher B Phelps & Rachelle Gaudet
8. Department of Biological Chemistry, Center of Sensory Biology, Johns Hopkins University, Baltimore, Maryland, USA
   Clare H Munns & Michael J Caterina
9. Department of Neuroscience, Center of Sensory Biology, Johns Hopkins University, Baltimore, Maryland, USA
   Clare H Munns & Michael J Caterina
10. University College London, Institute of Neurology, London, UK
    Reema Paudel & Henry Houlden
11. Laboratory of Neural Bases of Communication and Swallowing, James Madison University, Harrisonburg, Virginia, USA
    Christy L Ludlow

Authors

1. Guida Landouré
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2. Anselm A Zdebik
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3. Tara L Martinez
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4. Barrington G Burnett
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5. Horia C Stanescu
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6. Hitoshi Inada
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7. Yijun Shi
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8. Addis A Taye
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9. Lingling Kong
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10. Clare H Munns
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11. Shelly S Choo
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12. Christopher B Phelps
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13. Reema Paudel
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14. Henry Houlden
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15. Christy L Ludlow
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16. Michael J Caterina
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17. Rachelle Gaudet
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18. Robert Kleta
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19. Kenneth H Fischbeck
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20. Charlotte J Sumner
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Contributions

C.J.S., K.H.F. and R.K. directed the study, and C.J.S wrote the paper. C.J.S., K.H.F., C.L.L., H.H. and G.L. evaluated subjects. R.K., H.C.S., K.H.F. and G.L. did the genetic analysis, and Y.S., A.A.T., R.P., R.K., K.H.F and G.L. carried out the gene sequencing. B.G.B., T.L.M., L.K. and C.J.S. performed qRT-PCR, IHC, cell death assays and co-IP experiments. A.A.Z. completed cell surface biotinylation and electrophysiology in Xenopus oocytes. H.I. and R.G. did electrophysiology in HEK cells and protein-binding assays. Protein structure determination was done by R.G., S.S.C. and C.B.P. Cell calcium imaging was completed by C.H.M. and M.J.C.

Corresponding author

Correspondence toCharlotte J Sumner.

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Landouré, G., Zdebik, A., Martinez, T. et al. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.Nat Genet 42, 170–174 (2010). https://doi.org/10.1038/ng.512

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• Received: 05 October 2009
• Accepted: 03 December 2009
• Published: 27 December 2009
• Issue Date: February 2010
• DOI: https://doi.org/10.1038/ng.512