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SPTLC1 is mutated in hereditary sensory neuropathy, type 1

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Abstract

Hereditary sensory neuropathy type 1 (HSN1, MIM 162400; ref. 1) genetically maps to human chromosome 9q22 (refs. 2–4). We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.

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Figure 1: The HSN1 locus.

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Acknowledgements

We thank G. Nicholson for sharing prepublication results. This work was supported by the Deater Foundation, Inc., the Neuropathy Association, Inc., ProjectALS and the Muscular Dystrophy Association. R.H.B.'s laboratory also receives support from the A.L.S. Association, the P.L. de Bourgknecht A.L.S. Research Foundation, the Myrtle May MacLellan A.L.S. Research Foundation and the C.B. Day Investment Company, Inc. Support is also acknowledged from the National Institute of Health and the National Institute for Aging.

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Authors and Affiliations

  1. C.B. Day Laboratory for Neuromuscular Research, Massachusetts General Hospital (East), Charlestown, Massachusetts, USA

    Khemissa Bejaoui, Chenyan Wu, Margaret D. Scheffler, Geoffry Haan, Lianchan Wu & Robert H. Brown Jr.

  2. Neuromuscular Clinic, EW502, Toronto Western Hospital, Toronto, Ontario, Canada

    Peter Ashby

  3. Pfizer Laboratory for Molecular Genetics, Alameda, California, USA

    Chenyan Wu, Lianchan Wu & Peter de Jong

Authors
  1. Khemissa Bejaoui
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  2. Chenyan Wu
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  3. Margaret D. Scheffler
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  4. Geoffry Haan
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  5. Peter Ashby
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  6. Lianchan Wu
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  7. Peter de Jong
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  8. Robert H. Brown Jr.
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Correspondence to Robert H. Brown Jr..

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Bejaoui, K., Wu, C., Scheffler, M. et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 27, 261–262 (2001). https://doi.org/10.1038/85817

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  • DOI: https://doi.org/10.1038/85817

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