The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations
Abstract
Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24–q31, a region known to contain a cluster of voltage‐gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Na v 1.7. The mutations completely co‐segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss‐of‐function of the Na v 1.7 channel. These genetic data further support the evidence that Na v 1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP.
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Brunkow, M. E., Gardner, J. C., Van Ness, J., Paeper, B. W., Kovacevich, B. R., Proll, S., Skonier, J. E., Zhao, L., Sabo, P. J., Fu, Y.-H., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/318811 · Cited by 1,011
Cited by
Nociceptors—Noxious Stimulus Detectors
Woolf, C. J., & Ma, Q. (2007) · Neuron · doi:10.1016/j.neuron.2007.07.016 · Cited by 1,048
The Role of Voltage-Gated Sodium Channels in Pain Signaling
Bennett, D. L., Clark, A. J., Huang, J., Waxman, S. G., & Dib-Hajj, S. D. (2019) · Physiological Reviews · doi:10.1152/physrev.00052.2017 · Cited by 730
Burn injury: Challenges and advances in burn wound healing, infection, pain and scarring
Wang, Y., Beekman, J., Hew, J., Jackson, S., Issler-Fisher, A. C., Parungao, R., Lajevardi, S. S., Li, Z., & Maitz, P. K. M. (2018) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2017.09.018 · Cited by 696
Sodium Channels in Normal and Pathological Pain
Dib-Hajj, S. D., Cummins, T. R., Black, J. A., & Waxman, S. G. (2010) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-060909-153234 · Cited by 607
The roles of sodium channels in nociception: Implications for mechanisms of pain
Cummins, T. R., Sheets, P. L., & Waxman, S. G. (2007) · Pain · doi:10.1016/j.pain.2007.07.026 · Cited by 485
Metadata
- Authors
- Goldberg, Y., MacFarlane, J., MacDonald, M., Thompson, J., Dube, M., Mattice, M., Fraser, R., Young, C., Hossain, S., Pape, T., Payne, B., Radomski, C., Donaldson, G., Ives, E., Cox, J., Younghusband, H., Green, R., Duff, A., Boltshauser, E., Grinspan, G., Dimon, J., Sibley, B., Andria, G., Toscano, E., Kerdraon, J., Bowsher, D., Pimstone, S., Samuels, M., Sherrington, R., & Hayden, M.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2007-04
- Volume
- 71
- Issue
- 4
- Pages
- 311-319
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2048465186
- Cited by
- 455
- References
- 1
- FWCI
- 10.54
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations. https://app.cochat.ai/papers/10.1111/j.1399-0004.2007.00790.x
- The paper
- Goldberg, Y., MacFarlane, J., MacDonald, M., Thompson, J., Dube, M., Mattice, M., Fraser, R., Young, C., Hossain, S., Pape, T., Payne, B., Radomski, C., Donaldson, G., Ives, E., Cox, J., Younghusband, H., Green, R., Duff, A., Boltshauser, E., . . . Hayden, M. (2007). Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations. Clinical Genetics. https://doi.org/10.1111/j.1399-0004.2007.00790.x
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
