The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract
Open accessAbstract
Congenital anomalies of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease. CAKUT can be caused by monogenic mutations, however, data are lacking on their frequency. Genetic diagnosis has been hampered by genetic heterogeneity and lack of genotype-phenotype correlation. To determine the percentage of cases with CAKUT that can be explained by mutations in known CAKUT genes, we analyzed the coding exons of the 17 known dominant CAKUT-causing genes in a cohort of 749 individuals from 650 families with CAKUT. The most common phenotypes in this CAKUT cohort were 288 with vesicoureteral reflux, 120 with renal hypodysplasia and 90 with unilateral renal agenesis. We identified 37 different heterozygous mutations (33 novel) in 12 of the 17 known genes in 47 patients from 41 of the 650 families (6.3%). These mutations include (number of families): BMP7 (1), CDC5L (1), CHD1L (5), EYA1 (3), GATA3 (2), HNF1B (6), PAX2 (5), RET (3), ROBO2 (4), SALL1 (9), SIX2 (1), and SIX5 (1). Furthermore, several mutations previously reported to be disease-causing are most likely benign variants. Thus, in a large cohort over 6% of families with isolated CAKUT are caused by a mutation in 12 of 17 dominant CAKUT genes. Our report represents one of the most in-depth diagnostic studies of monogenic causes of isolated CAKUT in children.
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Cites
Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY
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“These findings encourage us to adhere to our strict definition of disease-causing variants as outlined in ‘Methods’ and are consistent with the findings that many alleles published as disease-causing may not reliably have such a role 41, 42 .”
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GATA3 haplo-insufficiency causes human HDR syndrome
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The Cellular Basis of Kidney Development
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Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome
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Cited by
Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes
Drilon, A., Hu, Z. I., Lai, G. G. Y., & Tan, D. S. W. (2018) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2017.175 · Cited by 406
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
Exploring the genetic basis of early-onset chronic kidney disease
Vivante, A., & Hildebrandt, F. (2016) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.205 · Cited by 344
Self-citation
Metadata
- Authors
- 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., Tasic, V., & Hildebrandt, F.
- Venue
- Kidney International
- Publisher
- Elsevier BV
- Published
- 2014-06
- Volume
- 85
- Issue
- 6
- Pages
- 1429-1433
- ISSN
- 0085-2538 (ISSN-L)
- OpenAlex
- W2161949692
- Cited by
- 263
- References
- 44
- FWCI
- 23.31
- Type
- journal article
- Language
- en
- Open access
- bronze
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- 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., Tasic, V., & Hildebrandt, F. (2014). Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract. Kidney International. https://doi.org/10.1038/ki.2013.508
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