The DOI matches its Crossref record; 19 of the 19 references it cites were found in a registry or an index.
Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
Open accessAbstract
BACKGROUND AND OBJECTIVES: Hepatocyte nuclear factor 1beta (HNF1beta) is a transcription factor that is critical for the development of kidney and pancreas. In humans, mutations in HNF1B lead to congenital anomalies of the kidney and urinary tract, pancreas atrophy, and maturity-onset diabetes of the young type 5 and genital malformations. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic tubulointerstitial nephropathy not associated with UMOD mutation). RESULTS: We found a heterozygous mutation in 75 (19.9%) index cases, consisting of a deletion of the whole gene in 42, deletion of one exon in one, and small mutations in 32. Eighteen mutations were novel. De novo mutations accounted for 66% of deletions and 40% of small mutations. In patients who carried HNF1B mutation and for whom we were able to study prenatal ultrasonography (56 probands), isolated hyperechogenic kidneys with normal or slightly enhanced size were the more frequent (34 of 56) phenotype before birth. Various other prenatal renal phenotypes were associated with HNF1B mutations, at a lesser frequency. Diabetes developed in four probands. Hyperuricemia and hypomagnesemia, although not systematically investigated, were frequently associated. CONCLUSIONS: This large series showed that the severity of the renal disease associated with HNF1B mutations was extremely variable (from prenatal renal failure to normal renal function in adulthood) and was not correlated with the genotype.
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Citations
Cites
Prediction of deleterious human alleles
Sunyaev, S. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.6.591 · Cited by 1,044
Mutation in hepatocyte nuclear factor–1β gene (TCF2) associated with MODY
Horikawa, Y., Iwasaki, N., Hara, M., Furuta, H., Hinokio, Y., Cockburn, B. N., Lindner, T., Yamagata, K., Ogata, M., Tomonaga, O., et al. (1997) · Nature Genetics · doi:10.1038/ng1297-384 · Cited by 880
Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1β
Coffinier, C., Gresh, L., Fiette, L., Tronche, F., Schütz, G., Babinet, C., Pontoglio, M., Yaniv, M., & Barra, J. (2002) · Development · doi:10.1242/dev.129.8.1829 · Cited by 358
Clinical Spectrum Associated with Hepatocyte Nuclear Factor-1β Mutations
Bellanné-Chantelot, C., Chauveau, D., Gautier, J.-F., Dubois-Laforgue, D., Clauin, S., Beaufils, S., Wilhelm, J.-M., Boitard, C., Noël, L.-H., Velho, G., et al. (2004) · Annals of Internal Medicine · doi:10.7326/0003-4819-140-7-200404060-00009 · Cited by 358
Mutations in hepatocyte nuclear factor-1β and their related phenotypes
Edghill, E. L., Bingham, C., Ellard, S., & Hattersley, A. T. (2006) · Journal of Medical Genetics · doi:10.1136/jmg.2005.032854 · Cited by 344
A transcriptional network in polycystic kidney disease
Gresh, L., Fischer, E., Reimann, A., Tanguy, M., Garbay, S., Shao, X., Hiesberger, T., Fiette, L., Igarashi, P., Yaniv, M., et al. (2004) · The EMBO Journal · doi:10.1038/sj.emboj.7600160 · Cited by 335
Variant Hepatocyte Nuclear Factor 1 is required for visceral endoderm specification
Barbacci, E., Reber, M., Ott, M.-O., Breillat, C., Huetz, F., & Cereghini, S. (1999) · Development · doi:10.1242/dev.126.21.4795 · Cited by 293
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
Bellanné-Chantelot, C., Clauin, S., Chauveau, D., Collin, P., Daumont, M., Douillard, C., Dubois-Laforgue, D., Dusselier, L., Gautier, J.-F., Jadoul, M., et al. (2005) · Diabetes · doi:10.2337/diabetes.54.11.3126 · Cited by 275
Renal Phenotypes Related to Hepatocyte Nuclear Factor-1β (TCF2) Mutations in a Pediatric Cohort
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Self-citation
Cited by
Porath, B., Gainullin, V. G., Cornec-Le Gall, E., Dillinger, E. K., Heyer, C. M., Hopp, K., Edwards, M. E., Madsen, C. D., Mauritz, S. R., Banks, C. J., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.05.004 · Cited by 475
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
Searching for maturity-onset diabetes of the young (MODY): when and what for?
Timsit, J., Saint-Martin, C., Dubois-Laforgue, D., & Bellanné-Chantelot, C. (2016) · Canadian Journal of Diabetes · doi:10.1016/j.jcjd.2015.12.005 · Cited by 55
Interstitial Nephritis in Children
Verghese, P. S., Luckritz, K. E., & Eddy, A. A. (2016) · Pediatric Kidney Disease · doi:10.1007/978-3-662-52972-0_38 · Cited by 6
Metadata
- Authors
- Heidet, L., Decramer, S., Pawtowski, A., Morinière, V., Bandin, F., Knebelmann, B., Lebre, A.-S., Faguer, S., Guigonis, V., Antignac, C., & Salomon, R.
- Venue
- Clinical Journal of the American Society of Nephrology
- Published
- 2010-06
- Volume
- 5
- Issue
- 6
- Pages
- 1079-1090
- ISSN
- 1555-9041 (ISSN-L)
- OpenAlex
- W2160107498
- Cited by
- 304
- References
- 19
- FWCI
- 4.37
- Type
- journal article
- Language
- en
- Open access
- green
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- Heidet, L., Decramer, S., Pawtowski, A., Morinière, V., Bandin, F., Knebelmann, B., Lebre, A.-S., Faguer, S., Guigonis, V., Antignac, C., & Salomon, R. (2010). Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases. Clinical Journal of the American Society of Nephrology. https://doi.org/10.2215/cjn.06810909
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