Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome

Pediatric Nephrology

Volumn 25, Issue 3, 2010, Pages 445-451

  Benoit, Geneviéve ^a,b   Machuca, Eduardo ^a,c   Nevo, Fabien ^a   Gribouval, Olivier ^a   Lepage, David ^a   Antignac, Corinne ^a,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b UNIVERSITY OF MONTREAL   (Canada)

^c PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^d UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

ACTN4; CD2AP; FSGS; Hereditary glomerular disease; Nephrotic syndrome

Indexed keywords

ALPHA ACTININ 4; CD2 ASSOCIATED PROTEIN; STEROID; ACTININ; ACTN4 PROTEIN, HUMAN; ANTIINFLAMMATORY AGENT; CD2-ASSOCIATED PROTEIN; CYTOSKELETON PROTEIN; DNA; MICROSATELLITE DNA; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY STUDY; FOCAL GLOMERULOSCLEROSIS; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; KIDNEY FAILURE; LINKAGE ANALYSIS; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NEPHROTIC SYNDROME; NUCLEOTIDE SEQUENCE; ONSET AGE; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; CHRONIC KIDNEY FAILURE; COHORT ANALYSIS; DRUG RESISTANCE; ETHNIC GROUP; FEMALE; GENETICS; INFANT; KIDNEY; MALE; MUTATION; PATHOLOGY; PRESCHOOL CHILD; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

ACTININ; ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AGE OF ONSET; ANTI-INFLAMMATORY AGENTS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOSKELETAL PROTEINS; DNA; DRUG RESISTANCE; ETHNIC GROUPS; FEMALE; HUMANS; INFANT; KIDNEY; KIDNEY FAILURE, CHRONIC; MALE; MICROSATELLITE REPEATS; MUTATION; NEPHROTIC SYNDROME; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; STEROIDS;

EID: 77950353855     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-009-1372-x     Document Type: Article

References (32)

1. Kestila M, Lenkkeri U, Mannikko M, Lamerdin J, McCready P, Putaala H, Ruotsalainen V, Morita T, Nissinen M, Herva R, Kashtan CE, Peltonen L, Holmberg C, Olsen A, Tryggvason K (1998) Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1:575-582 (Pubitemid 128374693)
2. Boute N, Gribouval O, Roselli S, Benessy F, Lee H, Fuchshuber A, Dahan K, Gubler MC, Niaudet P, Antignac C (2000) NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat Genet 24:349-354 (Pubitemid 30187431)
3. Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS (2003) CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 300:1298-1300 (Pubitemid 36618242)
4. Kaplan JM, Kim SH, North KN, Rennke H, Correia LA, Tong HQ, Mathis BJ, Rodriguez-Perez JC, Allen PG, Beggs AH, Pollak MR (2000) Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 24:251-256 (Pubitemid 30132192)
5. Patrakka J, Tryggvason K (2007) Nephrin-a unique structural and signaling protein of the kidney filter. Trends Mol Med 13:396-403 (Pubitemid 47385379)
6. Hartleben B, Schweizer H, Lubben P, Bartram MP, Moller CC, Herr R, Wei C, Neumann-Haefelin E, Schermer B, Zentgraf H, Kerjaschki D, Reiser J, Walz G, Benzing T, Huber TB (2008) Neph-Nephrin proteins bind the Par3-Par6-atypical protein kinase C (aPKC) complex to regulate podocyte cell polarity. J Biol Chem 283:23033-23038
7. Garg P, Verma R, Nihalani D, Johnstone DB, Holzman LB (2007) Neph1 cooperates with nephrin to transduce a signal that induces actin polymerization. Mol Cell Biol 27:8698-8712
8. Hinkes BG, Mucha B, Vlangos CN, Gbadegesin R, Liu J, Hasselbacher K, Hangan D, Ozaltin F, Zenker M, Hildebrandt F (2007) Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 119:e907-e919 (Pubitemid 46556655)
9. Lenkkeri U, Mannikko M, McCready P, Lamerdin J, Gribouval O, Niaudet PM, Antignac CK, Kashtan CE, Homberg C, Olsen A, Kestila M, Tryggvason K (1999) Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations. Am J Hum Genet 64:51-61 (Pubitemid 30428957)
10. Philippe A, Nevo F, Esquivel EL, Reklaityte D, Gribouval O, Tete MJ, Loirat C, Dantal J, Fischbach M, Pouteil-Noble C, Decramer S, Hoehne M, Benzing T, Charbit M, Niaudet P, Antignac C (2008) Nephrin mutations can cause childhood-onset steroidresistant nephrotic syndrome. J Am Soc Nephrol 19:1871-1878
11. Weber S, Gribouval O, Esquivel EL,Moriniere V, TeteMJ, Legendre C, Niaudet P, Antignac C (2004) NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 66:571-579 (Pubitemid 38981997)
12. Gbadegesin R, Hinkes BG, Hoskins BE, Vlangos CN, Heeringa SF, Liu J, Loirat C, Ozaltin F, Hashmi S, Ulmer F, Cleper R, Ettenger R, Antignac C, Wiggins RC, Zenker M, Hildebrandt F (2008) Mutations in PLCE1 are a major cause of isolated diffuse mesangial sclerosis (IDMS). Nephrol Dial Transplant 23:1291-1297 (Pubitemid 351767487)
13. Hinkes B, Wiggins RC, Gbadegesin R, Vlangos CN, Seelow D, Nurnberg G, Garg P, Verma R, Chaib H, Hoskins BE, Ashraf S, Becker C, Hennies HC, Goyal M, Wharram BL, Schachter AD, Mudumana S, Drummond I, Kerjaschki D, Waldherr R, Dietrich A, Ozaltin F, Bakkaloglu A, Cleper R, Basel-Vanagaite L, Pohl M, Griebel M, Tsygin AN, Soylu A, Muller D, Sorli CS, Bunney TD, Katan M, Liu J, Attanasio M, O'Toole JF, Hasselbacher K, Mucha B, Otto EA, Airik R, Kispert A, Kelley GG, Smrcka AV, Gudermann T, Holzman LB, Nurnberg P, Hildebrandt F (2006) Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 38:1397-1405 (Pubitemid 44837561)
14. Shih NY, Li J, Karpitskii V, Nguyen A, Dustin ML, Kanagawa O, Miner JH, Shaw AS (1999) Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 286:312-315 (Pubitemid 29484698)
15. Gigante M, Pontrelli P, Montemurno E, Roca L, Aucella F, Penza R, Caridi G, Ranieri E, Ghiggeri GM, Gesualdo L (2009) CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol Dial Transplant 24:1858-1864
16. Lowik M, Levtchenko E, Westra D, Groenen P, Steenbergen E, Weening J, Lilien M, Monnens L, van den Heuvel L (2008) Bigenic heterozygosity and the development of steroid-resistant focal segmental glomerulosclerosis. Nephrol Dial Transplant 23:3146-3151
17. Lowik MM, Groenen PJ, Pronk I, Lilien MR, Goldschmeding R, Dijkman HB, Levtchenko EN, Monnens LA, van den Heuvel LP (2007) Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 72: 1198-1203 (Pubitemid 350059656)
18. Weins A, Kenlan P, Herbert S, Le TC, Villegas I, Kaplan BS, Appel GB, Pollak MR (2005) Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis. J Am Soc Nephrol 16:3694-3701 (Pubitemid 46211291)
19. Weins A, Schlondorff JS, Nakamura F, Denker BM, Hartwig JH, Stossel TP, Pollak MR (2007) Disease-associated mutant alphaactinin- 4 reveals a mechanism for regulating its F-actin-binding affinity. Proc Natl Acad Sci U S A 104:16080-16085 (Pubitemid 350099367)
20. Dandapani SV, Sugimoto H, Matthews BD, Kolb RJ, Sinha S, Gerszten RE, Zhou J, Ingber DE, Kalluri R, Pollak MR (2007) Alpha-actinin-4 is required for normal podocyte adhesion. J Biol Chem 282:467-477 (Pubitemid 47076665)
21. Pollak MR, Alexander MP, Henderson JM (2007) A case of familial kidney disease. Clin J Am Soc Nephrol 2:1367-1374
22. Yao J, Le TC, Kos CH, Henderson JM, Allen PG, Denker BM, Pollak MR (2004) Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. PLoS Biol 2:e167 (Pubitemid 39234444)
23. Kos CH, Le TC, Sinha S, Henderson JM, Kim SH, Sugimoto H, Kalluri R, Gerszten RE, Pollak MR (2003) Mice deficient in alpha-actinin-4 have severe glomerular disease. J Clin Invest 111:1683-1690 (Pubitemid 38057750)
24. Putaala H, Soininen R, Kilpelainen P, Wartiovaara J, Tryggvason K (2001) The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death. Hum Mol Genet 10:1-8 (Pubitemid 32051561)
25. Roselli S, Heidet L, Sich M, Henger A, Kretzler M, Gubler MC, Antignac C (2004) Early glomerular filtration defect and severe renal disease in podocin-deficient mice. Mol Cell Biol 24:550-560 (Pubitemid 38057908)
26. Kopp JB, Smith MW, Nelson GW, Johnson RC, Freedman BI, Bowden DW, Oleksyk T, McKenzie LM, Kajiyama H, Ahuja TS, Berns JS, Briggs W, Cho ME, Dart RA, Kimmel PL, Korbet SM, Michel DM, Mokrzycki MH, Schelling JR, Simon E, Trachtman H, Vlahov D, Winkler CA (2008) MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40:1175-1184
27. Choi HJ, Lee BH, Cho HY, Moon KC, Ha IS, Nagata M, Choi Y, Cheong HI (2008) Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism. Am J Kidney Dis 51:834-838 (Pubitemid 351626253)
28. Sako M, Nakanishi K, Obana M, Yata N, Hoshii S, Takahashi S, Wada N, Takahashi Y, Kaku Y, Satomura K, Ikeda M, Honda M, Iijima K, Yoshikawa N (2005) Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 67:1248-1255 (Pubitemid 40463101)
29. Winn MP, Conlon PJ, Lynn KL, Farrington MK, Creazzo T, Hawkins AF, Daskalakis N, Kwan SY, Ebersviller S, Burchette JL, Pericak-Vance MA, Howell DN, Vance JM, Rosenberg PB (2005) A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 308:1801-1804 (Pubitemid 40848011)
30. Dietrich A, Mederos YSM, Gollasch M, Gross V, Storch U, Dubrovska G, Obst M, Yildirim E, Salanova B, Kalwa H, Essin K, Pinkenburg O, Luft FC, Gudermann T, Birnbaumer L (2005) Increased vascular smooth muscle contractility in TRPC6-/- mice. Mol Cell Biol 25:6980-6989 (Pubitemid 41105898)
31. Dai S, Wang Z, Pan X, Chen X, Wang W, Ren H, Feng Q, He JC, Han B, Chen N (2009) ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis. Nephron Clin Pract 111:c87-c94
32. Dai S, Wang Z, Pan X, Wang W, Chen X, Ren H, Hao C, Han B, Chen N (2009) Functional analysis of promoter mutations in the ACTN4 and SYNPO genes in focal segmental glomerulosclerosis. Nephrol Dial Transplant. doi:10.1093/ndt/gfp394