The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia: Results of the ESCAPE Study
Abstract
Renal hypodysplasia (RHD) is characterized by a reduced nephron number, small kidney size, and disorganized renal tissue. A hereditary basis has been established for a subset of affected patients, suggesting a major role of developmental genes that are involved in early kidney organogenesis. Gene mutations that have dominant inheritance and cause RHD, urinary tract anomalies, and defined extrarenal symptoms have been identified in TCF2 (renal cysts and diabetes syndrome), PAX2 (renal-coloboma syndrome), EYA1 and SIX1 (branchio-oto-renal syndrome), and SALL1 (Townes-Brocks syndrome). For estimation of the prevalence of these events, an unselected cohort of 99 unrelated patients with RHD that was associated with chronic renal insufficiency were screened for mutations in TCF2, PAX2, EYA1, SIX1, and SALL1. Mutations or variants in the genes of interest were detected in 17 (17%) unrelated families: One mutation, two variants, and four deletions of TCF2 in eight unrelated patients; four different PAX2 mutations in six families; one EYA1 mutation and one deletion in two patients with branchio-oto-renal syndrome; and one SALL1 mutation in a patient with isolated RHD. Of a total of 27 patients with renal cysts, six (22%) carried a mutation in TCF2. It is interesting that a SIX1 sequence variant was identified in two siblings with renal-coloboma syndrome as a result of a PAX2 mutation, suggesting an oligogenic inheritance. Careful clinical reevaluation that focused on discrete extrarenal symptoms and thorough family analysis revealed syndrome-specific features in nine of the 17 patients. In conclusion, 15% of patients with RHD show mutations in TCF2 or PAX2, whereas abnormalities in EYA1, SALL1, and SIX1 are less frequent.
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Cites
Eya1-deficient mice lack ears and kidneys and show abnormal apoptosis of organ primordia
Xu, P.-X., Adams, J., Peters, H., Brown, M. C., Heaney, S., & Maas, R. (1999) · Nature Genetics · doi:10.1038/12722 · Cited by 727
Abdelhak, S., Kalatzis, V., Heilig, R., Compain, S., Samson, D., Vincent, C., Weil, D., Cruaud, C., Sahly, I., Leibovici, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0297-157 · Cited by 671
Sanyanusin, P., Schimmenti, L. A., McNoe, L. A., Ward, T. A., Pierpont, M. E. M., Sullivan, M. J., Dobyns, W. B., & Eccles, M. R. (1995) · Nature Genetics · doi:10.1038/ng0495-358 · Cited by 663
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., & Engel, W. (1998) · Nature Genetics · doi:10.1038/ng0198-81 · Cited by 457
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
Ruf, R. G., Xu, P.-X., Silvius, D., Otto, E. A., Beekmann, F., Muerb, U. T., Kumar, S., Neuhaus, T. J., Kemper, M. J., Raymond, R. M., et al. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308475101 · Cited by 428
Six1 is required for the early organogenesis of mammalian kidney
Xu, P.-X., Zheng, W., Huang, L., Maire, P., Laclef, C., & Silvius, D. (2003) · Development · doi:10.1242/dev.00536 · Cited by 361
Murine homolog of SALL1 is essential for ureteric bud invasion in kidney development
Nishinakamura, R., Matsumoto, Y., Nakao, K., Nakamura, K., Sato, A., Copeland, N. G., Gilbert, D. J., Jenkins, N. A., Scully, S., Lacey, D. L., et al. (2001) · Development · doi:10.1242/dev.128.16.3105 · Cited by 358
Wingen, A.-M., Fabian-Bach, C., Schaefer, F., & Mehls, O. (1997) · The Lancet · doi:10.1016/s0140-6736(96)09260-4 · Cited by 299
Self-citationBrophy, P. D., Ostrom, L., Lang, K. M., & Dressler, G. R. (2001) · Development · doi:10.1242/dev.128.23.4747 · Cited by 298
Bingham, C., Bulman, M. P., Ellard, S., Allen, L. I. S., Lipkin, G. W., Hoff, W. G. V., Woolf, A. S., Rizzoni, G., Novelli, G., Nicholls, A. J., et al. (2001) · The American Journal of Human Genetics · doi:10.1086/316945 · Cited by 287
Cited by
Genetic, environmental, and epigenetic factors involved in CAKUT
Nicolaou, N., Renkema, K. Y., Bongers, E. M. H. F., Giles, R. H., & Knoers, N. V. A. M. (2015) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.140 · Cited by 344
HNF1B Mutations Associate with Hypomagnesemia and Renal Magnesium Wasting
Adalat, S., Woolf, A. S., Johnstone, K. A., Wirsing, A., Harries, L. W., Long, D. A., Hennekam, R. C., Ledermann, S. E., Rees, L., van't Hoff, W., et al. (2009) · Journal of the American Society of Nephrology · doi:10.1681/asn.2008060633 · Cited by 277
Hwang, D.-Y., Dworschak, G. C., Kohl, S., Saisawat, P., Vivante, A., Hilger, A. C., Reutter, H. M., Soliman, N. A., Bogdanovic, R., Kehinde, E. O., et al. (2014) · Kidney International · doi:10.1038/ki.2013.508 · Cited by 263
Innoceta, A. M., Olivucci, G., Parmeggiani, G., Scarano, E., Pragliola, A., & Graziano, C. (2023) · Genes · doi:10.3390/genes14020258 · Cited by 7
“Interestingly, the same 3414_3415delAT mutation in SALL1 had also been described in a 17-year-old patient with bilateral renal hypodysplasia without any extrarenal manifestations [27].”
Background
Metadata
- Authors
- Weber, S., Moriniere, V., Knüppel, T., Charbit, M., Dusek, J., Ghiggeri, G. M., Jankauskiené, A., Mir, S., Montini, G., Peco-Antic, A., Wühl, E., Zurowska, A. M., Mehls, O., Antignac, C., Schaefer, F., & Salomon, R.
- Venue
- Journal of the American Society of Nephrology
- Published
- 2006-10
- Volume
- 17
- Issue
- 10
- Pages
- 2864-2870
- ISSN
- 1046-6673 (ISSN-L)
- OpenAlex
- W2138920517
- Cited by
- 356
- References
- 28
- FWCI
- 5.03
- Type
- journal article
- Language
- en
- Open access
- closed
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- Weber, S., Moriniere, V., Knüppel, T., Charbit, M., Dusek, J., Ghiggeri, G. M., Jankauskiené, A., Mir, S., Montini, G., Peco-Antic, A., Wühl, E., Zurowska, A. M., Mehls, O., Antignac, C., Schaefer, F., & Salomon, R. (2006). Prevalence of Mutations in Renal Developmental Genes in Children with Renal Hypodysplasia: Results of the ESCAPE Study. Journal of the American Society of Nephrology. https://doi.org/10.1681/asn.2006030277
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