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Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2
Open accessAbstract
Five adult siblings presented with autosomal recessive sensorineural hearing loss: two had high-frequency loss, whereas the other three had severe-to-profound loss affecting all frequencies. Genetic evaluation revealed that a homozygous mutation in CDH23 (which encodes cadherin 23) caused the hearing loss in all five siblings and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings. V586M was detected in two unrelated persons with increased sensorineural hearing loss, in the other caused by a mutation in MYO6 (which encodes myosin VI) in one and by noise exposure, suggesting that this variant may modify the severity of sensorineural hearing loss caused by a variety of factors.
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Citations
Cited by
Calcium Pumps in Health and Disease
Brini, M., & Carafoli, E. (2009) · Physiological Reviews · doi:10.1152/physrev.00032.2008 · Cited by 676
Beuschlein, F., Boulkroun, S., Osswald, A., Wieland, T., Nielsen, H. N., Lichtenauer, U. D., Penton, D., Schack, V. R., Amar, L., Fischer, E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2550 · Cited by 577
Converging Evidence for an Association of ATP2B2 Allelic Variants with Autism in Male Subjects
Carayol, J., Sacco, R., Tores, F., Rousseau, F., Lewin, P., Hager, J., & Persico, A. M. (2011) · Biological Psychiatry · doi:10.1016/j.biopsych.2011.05.020 · Cited by 59
Metadata
- Authors
- Schultz, J. M., Yang, Y., Caride, A. J., Filoteo, A. G., Penheiter, A. R., Lagziel, A., Morell, R. J., Mohiddin, S. A., Fananapazir, L., Madeo, A. C., Penniston, J. T., & Griffith, A. J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2005-04-14
- Volume
- 352
- Issue
- 15
- Pages
- 1557-1564
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2116016749
- Cited by
- 176
- References
- 0
- FWCI
- 4.15
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Schultz, J. M., Yang, Y., Caride, A. J., Filoteo, A. G., Penheiter, A. R., Lagziel, A., Morell, R. J., Mohiddin, S. A., Fananapazir, L., Madeo, A. C., Penniston, J. T., & Griffith, A. J. (2005). Modification of Human Hearing Loss by Plasma-Membrane Calcium Pump PMCA2. New England Journal of Medicine. https://doi.org/10.1056/nejmoa043899
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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