The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness
Open accessAbstract
Recessive mutations of SLC26A4 (PDS) are a common cause of Pendred syndrome and non-syndromic deafness in western populations. Although south and east Asia contain nearly one half of the global population, the origins and frequencies of SLC26A4 mutations in these regions are unknown. We PCR amplified and sequenced seven exons of SLC26A4 to detect selected mutations in 274 deaf probands from Korea, China, and Mongolia. A total of nine different mutations of SLC26A4 were detected among 15 (5.5%) of the 274 probands. Five mutations were novel and the other four had seldom, if ever, been identified outside east Asia. To identify mutations in south Asians, 212 Pakistani and 106 Indian families with three or more affected offspring of consanguineous matings were analysed for cosegregation of recessive deafness with short tandem repeat markers linked to SLC26A4. All 21 SLC26A4 exons were PCR amplified and sequenced in families segregating SLC26A4 linked deafness. Eleven mutant alleles of SLC26A4 were identified among 17 (5.4%) of the 318 families, and all 11 alleles were novel. SLC26A4 linked haplotypes on chromosomes with recurrent mutations were consistent with founder effects. Our observation of a diverse allelic series unique to each ethnic group indicates that mutational events at SLC26A4 are common and account for approximately 5% of recessive deafness in south Asians and other populations.
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Cites
The History and Geography of Human Genes: Abridged paperback Edition
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175
Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
Everett, L. A., Glaser, B., Beck, J. C., Idol, J. R., Buchs, A., Heyman, M., Adawi, F., Hazani, E., Nassir, E., Baxevanis, A. D., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-411 · Cited by 1,144
Connexin-26 mutations in sporadic and inherited sensorineural deafness
Estivill, X., Fortina, P., Surrey, S., Rabionet, R., Melchionda, S., D'Agruma, L., Mansfield, E., Rappaport, E., Govea, N., Milà, M., et al. (1998) · The Lancet · doi:10.1016/s0140-6736(97)11124-2 · Cited by 647
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Self-citationRoyaux, I. E., Wall, S. M., Karniski, L. P., Everett, L. A., Suzuki, K., Knepper, M. A., & Green, E. D. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.071516798 · Cited by 548
Mutations in the Connexin 26 Gene (GJB2) among Ashkenazi Jews with Nonsyndromic Recessive Deafness
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Self-citationGenetic epidemiological studies of early‐onset deafness in the U.S. school‐age population
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Royaux, I. E. (2000) · Endocrinology · doi:10.1210/en.141.2.839 · Cited by 406
A mutation in PDS causes non-syndromic recessive deafness
Li, X. C., Everett, L. A., Lalwani, A. K., Desmukh, D., Friedman, T. B., Green, E. D., & Wilcox, E. R. (1998) · Nature Genetics · doi:10.1038/ng0398-215 · Cited by 392
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Lazarin, G. A., Haque, I. S., Nazareth, S., Iori, K., Patterson, A. S., Jacobson, J. L., Marshall, J. R., Seltzer, W. K., Patrizio, P., Evans, E. A., et al. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.114 · Cited by 271
Alford, R. L., Arnos, K. S., Fox, M., Lin, J. W., Palmer, C. G., Pandya, A., Rehm, H. L., Robin, N. H., Scott, D. A., & Yoshinaga-Itano, C. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.2 · Cited by 271
Self-citationPryor, S. P., Madeo, A. C., Reynolds, J. C., Sarlis, N. J., Arnos, K. S., Nance, W. E., Yang, Y., Zalewski, C. K., Brewer, C. C., Butman, J. A., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024208 · Cited by 256
Self-citationFunctional Characterization of Pendrin in a Polarized Cell System
Gillam, M. P., Sidhaye, A. R., Lee, E. J., Rutishauser, J., Stephan, C. W., & Kopp, P. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m313648200 · Cited by 149
Löf, C., Patyra, K., Kuulasmaa, T., Vangipurapu, J., Undeutsch, H., Jaeschke, H., Pajunen, T., Kero, A., Krude, H., Biebermann, H., et al. (2016) · Thyroid® · doi:10.1089/thy.2016.0016 · Cited by 81
Metadata
- Authors
- Park, H.-J., Shaukat, S., Liu, X.-Z., Hahn, S. H., Naz, S., Ghosh, M., Kim, H.-N., Moon, S.-K., Abe, S., Tukamoto, K., Riazuddin, S., Kabra, M., Erdenetungalag, R., Radnaabazar, J., Khan, S., Pandya, A., Usami, S.-I., Nance, W. E., Wilcox, E. R., Riazuddin, S., & Griffith, A. J.
- Venue
- Journal of Medical Genetics
- Publisher
- BMJ
- Published
- 2003-04
- Volume
- 40
- Issue
- 4
- Pages
- 242-248
- ISSN
- 0022-2593 (ISSN-L)
- 1468-6244
- OpenAlex
- W2148872965
- Cited by
- 317
- References
- 24
- FWCI
- 4.88
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Park, H.-J., Shaukat, S., Liu, X.-Z., Hahn, S. H., Naz, S., Ghosh, M., Kim, H.-N., Moon, S.-K., Abe, S., Tukamoto, K., Riazuddin, S., Kabra, M., Erdenetungalag, R., Radnaabazar, J., Khan, S., Pandya, A., Usami, S.-I., Nance, W. E., Wilcox, E. R., . . . Griffith, A. J. (2003). Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. Journal of Medical Genetics. https://doi.org/10.1136/jmg.40.4.242
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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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