Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy

Nephrology Dialysis Transplantation

Volumn 29, Issue , 2014, Pages iv80-iv86

  Caridi, Gianluca ^a   Lugani, Francesca ^a   Dagnino, Monica ^a   Gigante, Maddalena ^b   Iolascon, Achille ^c   Falco, Mariateresa ^c   Graziano, Claudio ^d   Benetti, Elisa ^e   Dugo, Mauro ^f   Del Prete, Dorella ^g   Granata, Antonio ^h   Borracelli, Donella ⁱ   Moggia, Elisabetta ^j   Quaglia, Marco ^k   Rinaldi, Rita ^d   Gesualdo, Loreto ^l   Ghiggeri, Gian Marco ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^d UNIVERSITY OF BOLOGNA   (Italy)

^e UNIVERSITY HOSPITAL OF PADOVA   (Italy)

^f ULSS 9   (Italy)

^g UNIVERSITY OF PADOVA   (Italy)

^h SAN GIOVANNI DI DIO HOSPITAL   (Italy)

ⁱ Ospedale Alta Val d'Elsa   (Italy)

^j S CROCE E CARLE HOSPITAL   (Italy)

^k Amedeo Avogadro University   (Italy)

^l UNIVERSITY OF BARI   (Italy)

more..

Author keywords

Focal segmental glomerulosclerosis; INF2 gene; Mutation analysis; Proteinuria

Indexed keywords

CREATININE; ACTIN BINDING PROTEIN; INF2 PROTEIN, HUMAN; PRIMER DNA;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; END STAGE RENAL DISEASE; EXON; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE MUTATION; HEMATURIA; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INF2 GENE; ITALIAN (CITIZEN); KIDNEY FAILURE; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEINURIA; AMINO ACID SEQUENCE; CHEMISTRY; CHRONIC KIDNEY FAILURE; GENETICS; ITALY; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; MUTATION ANALYSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; YOUNG ADULT;

FOCAL SEGMENTAL GLOMERULOSCLEROSIS; INF2 GENE; MUTATION ANALYSIS; PROTEINURIA;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; CHARCOT-MARIE-TOOTH DISEASE; CHILD; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; ITALY; KIDNEY FAILURE, CHRONIC; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; YOUNG ADULT;

EID: 84908510689     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfu071     Document Type: Article

References (29)

1. Meyrier A. Mechanisms of disease: focal segmental glomerulosclerosis. Nat Clin Pract Nephrol 2005: 1: 44-54
2. D'Agati VD, Fogo AB, Bruijn JA et al. Pathologic classification of focal segmental glomerulosclerosis: a working proposal. Am J Kidney Dis 2004: 43: 368-382
3. D'Agati VD, Kaskel FJ, Falk RJ. Focal segmental glomerulosclerosis. N Engl J Med 2011: 365: 2398-2411
4. Hogg R, Middleton J, Vehaskari VM. Focal segmental glomerulosclerosis - epidemiology aspects in children and adults. Pediatr Nephrol 2007: 22: 183-186
5. Cattran DC, Rao P. Long-term outcome in children and adults with classic focal segmental glomerulosclerosis. Am J Kidney Dis 1998: 32: 72-79
6. Caridi G, Trivelli A, Sanna-Cherchi S et al. Familial forms of nephrotic syndrome. Pediatr Nephrol 2010: 25: 241-252
7. Kaplan JM, Kim SH, North KN et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat Genet 2000: 24: 251-256
8. Winn MP, Conlon PJ, Lynn KL et al. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. Science 2005: 308: 1801-1804
9. Kim JM, Wu H, Green G et al. CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility. Science 2003: 300: 1298-1300
10. Gigante M, Pontrelli P, Montemurno E et al. CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS). Nephrol Dial Transplant 2009: 24: 1858-1864
11. Benetti E, Caridi G, Malaventura C et al. A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis. Clin J Am Soc Nephrol 2010: 5: 698-702
12. Boyer O,Woerner S, Yang F et al. LMX1B mutations cause hereditary FSGS without extrarenal involvement. J Am Soc Nephrol 2013: 24: 1216-1222
13. Akilesh S, Suleiman H, Yu H et al. Arhgap24 inactivates Rac1 in mouse podocytes, and a mutant form is associated with familial focal segmental glomerulosclerosis. J Clin Invest 2011: 121: 4127-4137
14. Brown EJ, Schlondorff JS, Becker DJ et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010: 42: 72-76
15. Boyer O, Benoit G, Gribouval O et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 2011: 22: 239-245
16. Boyer O, Nevo F, Plaisier E et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011: 365: 2377-2388
17. Caridi G, Bertelli R, Carrea A et al. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J Am Soc Nephrol 2001: 12: 2742-2746
18. Caridi G, Bertelli R, Di Duca M et al. Broadening the spectrum of diseases related to podocin mutations. J Am Soc Nephrol 2003: 14: 1278-1286
19. Gigante M, Caridi G, Montemurno E et al. TRPC6 mutations in children with steroid-resistant nephrotic syndrome and atypical phenotype. Clin J Am Soc Nephrol 2011: 6: 1626-1634
20. Faix J, Grosse R. Staying in shape with formins. Dev Cell 2006: 10: 693-706
21. Gbadegesin RA, Lavin PJ, Hall G et al. Inverted formin 2 mutations with variable expression in patients with sporadic and hereditary focal and segmental glomerulosclerosis. Kidney Int 2012: 81: 94-99
22. Lee HK, Han KH, Jung YH et al. Variable renal phenotype in a family with an INF2 mutation. Pediatr Nephrol 2011: 26: 73-76
23. Rodriguez PQ, Lohkamp B, Celsi G et al. Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy. Pediatr Nephrol 2013: 28: 339-343
24. Barua M, Brown EJ, Charoonratana VT et al. Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis. Kidney Int 2013: 83: 316-322
25. Sanchez-Ares M, Garcia-Vidal M, Antucho EE et al. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. Kidney Int 2013: 83: 153-159
26. Toyota K, Ogino D, Hayashi M et al. INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. J Peripher Nerv Syst 2013: 18: 97-98
27. Lipska BS, Iatropoulos P, Maranta R et al. Genetic screening in adolescents with steroid-resistant nephrotic syndrome. Kidney Int 2013: 84: 206-213
28. Mademan I, Deconinck T, Dinopoulos A et al. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology 2013: 81: 1953-1958
29. Ghiggeri GM, Caridi G, Magrini U et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 2003: 41: 95-104