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Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome
Open accessAbstract
Pathologic thrombosis is a major cause of mortality. Hemolytic-uremic syndrome (HUS) features episodes of small-vessel thrombosis resulting in microangiopathic hemolytic anemia, thrombocytopenia and renal failure. Atypical HUS (aHUS) can result from genetic or autoimmune factors that lead to pathologic complement cascade activation. Using exome sequencing, we identified recessive mutations in DGKE (encoding diacylglycerol kinase ɛ) that co-segregated with aHUS in nine unrelated kindreds, defining a distinctive Mendelian disease. Affected individuals present with aHUS before age 1 year, have persistent hypertension, hematuria and proteinuria (sometimes in the nephrotic range), and develop chronic kidney disease with age. DGKE is found in endothelium, platelets and podocytes. Arachidonic acid–containing diacylglycerols (DAG) activate protein kinase C (PKC), which promotes thrombosis, and DGKE normally inactivates DAG signaling. We infer that loss of DGKE function results in a prothrombotic state. These findings identify a new mechanism of pathologic thrombosis and kidney failure and have immediate implications for treating individuals with aHUS.
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The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
PLINK: a tool set for whole-genome association and population-based linkage analyses.
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M. A. R., Bender, D., Maller, J., Sklar, P., de Bakker, P. I. W., Daly, M. J., et al. (2007) · The American Journal of Human Genetics · doi:10.1086/519795 · Cited by 34,089
Haploview: analysis and visualization of LD and haplotype maps
Barrett, J. C., Fry, B., Maller, J., & Daly, M. J. (2005) · Bioinformatics · doi:10.1093/bioinformatics/bth457 · Cited by 14,525
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
PERIODATE-LYSINE-PARAFORMALDEHYDE FIXATIVE A NEW FIXATIVE FOR IMMUNOELECTRON MICROSCOPY
MCLEAN, I. W., & NAKANE, P. K. (1974) · Journal of Histochemistry & Cytochemistry · doi:10.1177/22.12.1077 · Cited by 3,798
Hematological Problems in Pediatric Intensive Care
Revel-Vilk, S., Cox, P., Robitaille, N., & Blanchette, V. (2014) · Pediatric and Adolescent Medicine · doi:10.1159/000350346 · Cited by 3,508
Non-Transgenic Mouse Models of Kidney Disease
Rabe, M., & Schaefer, F. (2016) · Nephron · doi:10.1159/000445171 · Cited by 1,922
Self-citationRegulation of Phosphoinositide-Specific Phospholipase C
Rhee, S. G. (2001) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.70.1.281 · Cited by 1,628
VEGF Inhibition and Renal Thrombotic Microangiopathy
Eremina, V., Jefferson, J. A., Kowalewska, J., Hochster, H., Haas, M., Weisstuch, J., Richardson, C., Kopp, J. B., Kabir, M. G., Backx, P. H., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa0707330 · Cited by 1,504
Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol
Hofmann, T., Obukhov, A. G., Schaefer, M., Harteneck, C., Gudermann, T., & Schultz, G. (1999) · Nature · doi:10.1038/16711 · Cited by 1,495
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Guidelines for investigating causality of sequence variants in human disease
MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., et al. (2014) · Nature · doi:10.1038/nature13127 · Cited by 1,224
Syndromes of Thrombotic Microangiopathy
George, J. N., & Nester, C. M. (2014) · New England Journal of Medicine · doi:10.1056/nejmra1312353 · Cited by 1,279
Complement System Part II: Role in Immunity
Merle, N. S., Noe, R., Halbwachs-Mecarelli, L., Fremeaux-Bacchi, V., & Roumenina, L. T. (2015) · Frontiers in Immunology · doi:10.3389/fimmu.2015.00257 · Cited by 1,051
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands
Jin, S. C., Homsy, J., Zaidi, S., Lu, Q., Morton, S., DePalma, S. R., Zeng, X., Qi, H., Chang, W., Sierant, M. C., et al. (2017) · Nature Genetics · doi:10.1038/ng.3970 · Cited by 875
Self-citationConnelly‐Smith, L., Alquist, C. R., Aqui, N. A., Hofmann, J. C., Klingel, R., Onwuemene, O. A., Patriquin, C. J., Pham, H. P., Sanchez, A. P., Schneiderman, J., et al. (2023) · Journal of Clinical Apheresis · doi:10.1002/jca.22043 · Cited by 684
Metadata
- Authors
- Lemaire, M., Frémeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., Mane, S. M., Nürnberg, G., Altmüller, J., Thiele, H., Morin, D., Deschenes, G., Baudouin, V., Llanas, B., Collard, L., Majid, M. A., Simkova, E., Nürnberg, P., Rioux-Leclerc, N., Moeckel, G. W., Gubler, M. C., Hwa, J., Loirat, C., & Lifton, R. P.
- Venue
- Nature Genetics
- Published
- 2013-03-31
- Volume
- 45
- Issue
- 5
- Pages
- 531-536
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2024751825
- Cited by
- 483
- References
- 40
- FWCI
- 29.89
- Type
- journal article
- Language
- en
- Open access
- green
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- Lemaire, M., Frémeaux-Bacchi, V., Schaefer, F., Choi, M., Tang, W. H., Le Quintrec, M., Fakhouri, F., Taque, S., Nobili, F., Martinez, F., Ji, W., Overton, J. D., Mane, S. M., Nürnberg, G., Altmüller, J., Thiele, H., Morin, D., Deschenes, G., Baudouin, V., . . . Lifton, R. P. (2013). Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics. https://doi.org/10.1038/ng.2590
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