CD2AP mutations are associated with sporadic nephrotic syndrome and focal segmental glomerulosclerosis (FSGS)

Nephrology Dialysis Transplantation

Volumn 24, Issue 6, 2009, Pages 1858-1864

  Gigante, Maddalena ^a   Pontrelli, Paola ^a   Montemurno, Eustacchio ^a   Roca, Leonarda ^a   Aucella, Filippo ^a   Penza, Rosa ^a   Caridi, Gianluca ^b   Ranieri, Elena ^a   Ghiggeri, Gian Marco ^b   Gesualdo, Loreto ^a  

^a UNIVERSITY OF FOGGIA   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

CD2AP; Mutations; Nephrotic syndrome

Indexed keywords

CD2 ANTIGEN; CD2 ASSOCIATED PROTEIN; DIATRIZOATE; FICOLL; GLUTAMIC ACID; LIPOCORTIN 5; LYSINE; METHIONINE; NEPHRIN; PODOCIN; PROPIDIUM IODIDE; PROTEIN SH3;

ADULT; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL ISOLATION; CELL VIABILITY; CHILD; CONFOCAL LASER MICROSCOPY; CONTROLLED STUDY; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DOWN REGULATION; FEMALE; FLOW CYTOMETRY; FOCAL GLOMERULOSCLEROSIS; GENE CLUSTER; GENE DELETION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GLOMERULUS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; IMMUNOFLUORESCENCE; KIDNEY BIOPSY; MAJOR CLINICAL STUDY; MALE; NEPHROTIC SYNDROME; PERIPHERAL BLOOD MONONUCLEAR CELL; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DETERMINATION; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; SEQUENCE ANALYSIS; T LYMPHOCYTE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; ANTIGENS, CD2; APOPTOSIS; BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA; FEMALE; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HUMANS; MALE; MICE; MICE, KNOCKOUT; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; NEPHROTIC SYNDROME; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; T-LYMPHOCYTES; YOUNG ADULT;

EID: 67651091685     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfn712     Document Type: Article

References (17)

1. Dustin ML, Olszowy MW, Holdorf AD et al. A novel adaptor protein orchestrates receptor patterning and cytoskeletal polarity in T-cell contacts. Cell 1998; 94: 667-677
2. Shih NY, Li J, Cotran R et al. CD2AP localizes to the slit diaphragm and binds to nephrin via a novel C-terminal domain. Am J Pathol 2001; 159: 2303-2308
3. Schwarz K, Simons M, Resier J et al. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J Clin Invest 2001; 108: 1621-1629
4. Shih NY, Li J, Karpitskii V et al. Congenital nephrotic syndrome in mice lacking CD2-associated protein. Science 1999; 286: 312-315
5. Kim JM, Wu H, Green G et al. CD2-associated protein haploinsuf-ficiency is linked to glomerular disease susceptibility. Science 2003; 300: 1298-1300
6. Grunkemeyer JA, Kwoh C, Huber TB et al. CD2-associated Protein (CD2AP) expression in podocytes rescues lethality of CD2AP deficiency. JBiolChem 2005; 280: 29677-29681
7. Lowik MM, Groenen PJ, Pronk I et al. Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Kidney Int 2007; 72: 1198-1203
8. Ruotsalainen V, Ljungberg I, Wartiovaara J et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci 1999; 96: 7962-7967
9. Huber TB, Hartleben B, Kim J et al. Nephrin and CD2AP associate with phosphoinositide 3-OH kinase and stimulate AKT-dependent signaling. Mol Cell Biol 2003; 23: 4917-4928
10. Kriz W, Gretz N, Lemley KV. Progression of glomerular diseases: is the podocyte the culprit? Kidney Int 1998; 54: 687-697
11. Kriz W, Lemley KV. The role of the podocyte in glomerulosclerosis. Curr Opin Nephrol Hypertens 1999; 8: 489-497
12. Doublier S, Routsalainen V, Salvidio G et al. Nephrin redistribution on podocytes is a potential mechanism for proteinuria in patients with primary acquired nephrotic syndrome. Am J Pathol 2001; 158: 1723-1731
13. Horinouchi I, Nakazato H, Kawano T et al. In situ evaluation of podocin in normal and glomerular diseases. Kidney Int 2003; 64: 2092-2099
14. Akilesh S, Koziell A, Shaw AS. Basic science meets clinical medicine: identification of a CD2AP-deficient patient. Kidney Int 2007; 72: 1181-1183
15. 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. Am Soc Nephrol 2001; 12: 2742-2746
16. Aucella F, Bisceglia L, De Bonis P et al. WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes. Pediatr Nephrol 2006; 21: 1393-1398
17. Lahdenkari AT, Kestilä M, Holmberg C et al. Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS). Kidney Int 2004; 65: 1856-1863