Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis

Nature Genetics

Volumn 37, Issue 9, 2005, Pages 964-968

  Gribouval, Olivier ^a   Gonzales, Marie ^b   Neuhaus, Thomas ^c   Aziza, Jacqueline ^d   Bieth, Eric ^d   Laurent, Nicole ^e   Bouton, Jean Marie ^f   Feuillet, François ^g   Makni, Saloua ^h   Amar, Hatem Ben ⁱ   Laube, Guido ^c   Delezoide, Anne Lise ^j   Bouvier, Raymonde ^k   Dijoud, Frédérique ^l   Ollagnon Roman, Elisabeth ^m   Roume, Joelle ⁿ   Joubert, Madeleine ^o   Antignac, Corinne ^a,p   Gubler, Marie Claire ^a  

^a INSERM   (France)

^b HÔPITAL SAINT ANTOINE   (France)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d CHU PURPAN   (France)

^e DIJON UNIVERSITY HOSPITAL   (France)

^f Hopital Prive d'Antony   (France)

^g HÔPITAL D ENFANTS   (France)

^h HABIB BOURGUIBA HOSPITAL   (Tunisia)

ⁱ HEDI CHAKER HOSPITAL   (Tunisia)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k EDOUARD HERRIOT HOSPITAL   (France)

^l HÔPITAL DEBROUSSE   (France)

^m CROIX ROUSSE HOSPITAL   (France)

ⁿ CENTRE HOSPITALIER INTERCOMMUNAL   (France)

^o HÔTEL DIEU   (France)

^p HÔPITAL NECKER ENFANTS MALADES   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANGIOTENSIN RECEPTOR; ANGIOTENSIN 1 RECEPTOR; ANGIOTENSINOGEN; DIPEPTIDYL CARBOXYPEPTIDASE; RENIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; FAMILY; FETUS; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY DEVELOPMENT; KIDNEY TUBULE DISORDER; PERFUSION; PRESSURE; PRIORITY JOURNAL; RENIN ANGIOTENSIN ALDOSTERONE SYSTEM; ADOLESCENT; ANURIA; CONGENITAL MALFORMATION; FEMALE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; KIDNEY TUBULE; MALE; MUTATION; NEWBORN; PATHOLOGY; PREGNANCY; RECESSIVE GENE;

ADOLESCENT; ANGIOTENSINOGEN; ANURIA; FAMILY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; KIDNEY TUBULES; MALE; MUTATION; PEPTIDYL-DIPEPTIDASE A; PREGNANCY; RECEPTOR, ANGIOTENSIN, TYPE 1; RENIN;

EID: 25144461158     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1623     Document Type: Article

References (30)

1. Allanson, J.E., Pantzar, J.T. & Macleod, P.M. Possible new autosomal recessive syndrome with unusual renal histological changes. Am. J. Med. Genet. 16, 57-60 (1983).
2. Allanson, J.E., Hunter, A.G.W., Mettler, G.S. & Jimenez, C. Renal tubular dysgenesis: A not uncommon autosomal recessive syndrome: A review. Am. J. Med. Genet. 43, 811-814 (1992).
3. Gubler, M.C., Lacoste, M., Guicharnaud, L. & Mounier, F. Dysgénésie tubulaire rénale et système rénine-angiotensine. Ann. Pédiatr. 42, 608-611 (1995).
4. Ariel, I. et ai. Familial renal tubular dysgenesis: a disorder not isolated to proximal tubules. Pediatr. Pathol. Lab. Med. 15, 915-922 (1995).
5. Querfeld, U., Ortmann, M., Vierzig, A. & Roth, B. Renal tubular dysgenesis: a report of two cases. J. Perinatol. 16, 498-500 (1996).
6. McFadden, D.E., Pantzar, J.T., Van Allen, M.I.I. & Langlois, S. Renal tubular dysgenesis with calvaria hypoplasia: report of two additional cases and review. J. Med. Genet. 34, 846-848 (1997).
7. Kumar, D., Moss, G., Primhak, R. & Coombs, R. Congenital renal tubular dysplasia and skull ossification defects similar to teratogenic effects of angiotensin converting enzyme (ACE) inhibitors. J. Med. Genet. 34, 541-545 (1997).
8. Kriegsmann, J. et al. Renal tubular dysgenesis (RTD). An important cause of the oligohydramnion-sequence. Report of 3 cases and review of the literature. Pathol. Res. Pract. 196, 861-865 (2000).
9. Kemper, M.J. et al. Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges. Clin. Nephrol. 56, S9-S12 (2001).
10. Seyle, H. Transformation of the kidney into an exclusively endocrin organ. Nature 158, 131 (1946).
11. Landing, B.H., Ang, S.M., Herta, N., Larson, E.F.& Turner, M. Labeled lectin studies of renal tubular dysgenesis and renal tubular atrophy of postnatal renal ischemia and end-stage kidney disease. Pediatr. Pathol. 14, 87-99 (1994).
12. Marcussen, N. Atubular glomeruli in renal artery stenosis. Lab. Invest. 65, 558-565 (1991).
13. Genest, D.R. & Lage, J.M. Absence of normal-appearing proximal tubules in the fetal and neonatal kidney: Prevalence and significance. Hum. Pathol. 22, 147-153 (1991).
14. Mahieu-Caputo, D. et al. Twin to twin transfusion syndrome. Role of the fetal renin-angiotensin system. Am. J. Pathol. 156, 629-636 (2000).
15. Johal, J.S., Thorp, J.W. & Oyer, C.E. Neonatal hemochromatosis, renal tubular dysgenesis, and hypocalvaria in a neonate. Pediatr. Dev. Pathol. 1, 433-437 (1998).
16. Barr, M. Jr. & Cohen, M. Jr. ACE inhibitor fetopathy and hypocalvaria: the kidney-skull connection. Teratology 44, 485-495 (1991).
17. Martinovic, J., Benachi, A., Laurent, N., Daïkha-Dahmane, F. & Gubler, M.C. Fetal toxic effects of angiotensin II receptor antagonists. Report of three additional cases. Lancet 358, 241-242 (2001).
18. Schütz, S., Le Moullec, J.M., Corvol, P. & Gasc, J.M. Early expression of all components of the renin-angiotensin-system in human development. Am. J. Pathol. 149, 2067-2079 (1996).
19. Tufro-McReddie, A. & Gomez, R.A. Ontogeny of the renin-angiotensin system. Semin. Nephrol. 13, 519-530 (1993).
20. Reese, M.G., Eeckman, F.H., Kulp, D. & Haussier, D. Improved splice site detection in Genie. J. Comput. Biol 4, 311-323 (1997).
21. Morris, B.J. et al. Human renin gene sequence, gene regulation and prorenin processing. J. Hypertens. 2, suppl. 3, 231-233 (1984).
22. Ng, P.C. & Henikoff, S. Predicting deleterious amino acid substitutions. Genome Res. 11, 863-874 (2001).
23. Gaillard, I., Clauser, E. & Corvol, P. Structure of human angiotensinogen gene. DNA 8, 87-99 (1989).
24. Streatfeild-James, R.M. et al. Angiotensinogen cleavage by renin: importance of a structurally constrained N-terminus. FEBS Lett. 436, 267-270 (1998).
25. Miura, S., Saku, K. & Karnik, S.S. Molecular analysis of the structure and function of the angiotensin II type 1 receptor. Hypertens. Res. 26, 937-943 (2003).
26. Hubert, C., Houot, A.M., Corvol, P. & Soubrier, F. Structure of the angiotensin I-converting enzyme gene. Two alternate promoters correspond to evolutionary steps of a duplicated gene. J. Biol. Chem. 266, 15377-15383 (1991).
27. Tufro-McReddie, A. et al. Angiotensin II type 1 receptor: role in renal growth and gene expression during normal development. Am. J. Physiol. 266, F911-F918 (1994).
28. Sequeira Lopez, M.L., Pentz, E.S., Nomasa, T., Smithies, O. & Gomez, R.A. Renin cells are precursors for multiple cell types that switch to the renin phenotype when homeostasis is threatened. Dev. Cell 6, 719-728 (2004).
29. Takahashi, N. & Smithies, O. Human genetics, animal models and computer simulations for studying hypertension. Trends Genet. 20, 136-145 (2004).
30. Nishimura, H. et al. Role of the angiotensin type 2 receptor gene in congenital anomalies of the kidney and urinary tract, CAKUT, of mice and men. Mol. Cell 3, 1-10 (1999).