NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

Journal of Clinical Investigation

Volumn 110, Issue 11, 2002, Pages 1659-1666

  Tsukaguchi, Hiroyasu ^a,b   Sudhakar, Akulapalli ^c   Le, Tu Cam ^b   Nguyen, Trang ^b   Yao, Jun ^b   Schwimmer, Joshua A ^d   Schachter, Asher D ^e   Poch, Esteban ^f   Abreu, Patricia F ^g   Appel, Gerald B ^d   Pereira, Aparecido B ^g   Kalluri, Raghu ^c   Pollak, Martin R ^b  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

^c BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^d Columbia Coll of Physicians/Surg ^*  (United States)

^e BOSTON CHILDREN S HOSPITAL   (United States)

^f HOSPITAL CLÍNIC   (Spain)

^g FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOSTEROID; NEPHRIN;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME ANALYSIS; CONTROLLED STUDY; FAMILY; FOCAL GLOMERULOSCLEROSIS; GENE FREQUENCY; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GLOMERULOSCLEROSIS; HAPLOTYPE; HETEROZYGOTE; HUMAN; IN VITRO STUDY; MUTANT; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PURIFICATION; SCREENING; SEGMENTAL GLOMERULOSCLEROSIS;

EID: 0036897388     PISSN: 00219738     EISSN: None     Source Type: Journal    
DOI: 10.1172/JCI0216242     Document Type: Article

References (31)

1. D'Agaci, V. 1994. The many masks of focal segmental glomerulosclerosis. Kidney Int. 46:1223-1241.
2. Ichikawa, I., and Fogo, A. 1996. Focal segmental glomerulsoclerosis. Pediatr. Nephrol. 10:374-391.
3. Somlo, S., and Mundel, P. 2000. Getting a foothold in nephrotic syndrome. Nat. Genet. 24:333-335.
4. Kestila, M., et al. 1998. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol. Cell. 1:575-582.
5. Holzman, L.B., et al. 1999. Nephrin localizes to the slit pore of the glomerular epithelial cell. Kidney Int. 56:1481-1491.
6. Ruotsalainen, V., et al. 1999. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc. Natl. Acad. Sci. USA. 96:7962-7967.
7. Kaplan, J.M., et al. 2000. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 24:251-256.
8. Winn, M.P., et al. 1999. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics. 58:113-120.
9. Boute, N., et al. 2000. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 24:349-354.
10. Fuchshuber, A., et al. 1995. Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum. Mol. Genet. 4:2155-2158.
11. Wu, M.C., Wu, J.Y., Lee, C.C., Tsai, C.H., and Tsai, F.J. 2001. Two novel polymorphisms (c954T>C and c1038A>G) in exon8 of NPHS2 gene identified in Taiwan Chinese. Hum. Mutat. 17:237.
12. Wu, M.C., Wu, J.Y., Lee, C.C., Tsai, C.H., and Tsai, F.J. 2001. A novel polymorphism (c288C>T) of the NPHS2 gene identified in a Taiwan Chinese family. Hum. Murat. 17:81-82.
13. Fuchshuber, A., et al. 2001. Clinical and genetic evaluation of familial steroid-responsive nephrotic syndrome in childhood. J. Am. Soc. Nephrol. 12:374-378.
14. Caridi, G., et al. 2001. Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis. J. Am. Soc. Nephrol. 12:2742-2746.
15. Frishberg, Y., et al. 2002. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J. Am. Soc. Nephrol. 13:400-405.
16. Koziell, A., et al. 2002. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional interrelationship in glomerular filtration. Hum. Mol. Genet. 11:379-388.
17. Schwarz, K., et al. 2001. Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. J. Clin. Invest. 108:1621-1629.
18. Huber, T.B., Kottgen, M., Schilling, B., Walz, G., and Benzing, T. 2001. Interaction with podocin facilitates nephrin signaling. J. Biol. Chem. 276:41543-41546.
19. Tsukaguchi, H., et al. 2000. A locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31. J. Am. Soc. Nephrol. 11:1674-1680.
20. Hamano, Y., et al. 2002. Determinants of vascular permeability in the kidney glomerulus. J. Biol. Chem. 277:31154-31162.
21. Maeshima, Y., et al. 2002. Tumstatin, an endothelial cell-specific inhibitor ofprotein synthesis. Science. 295:140-143.
22. Karle, S.M, et al. 2002. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 13:388-393.
23. Feder, J.N., et al. 1996. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat. Genet. 13:399-408.
24. Chillon, M., et al. 1995. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. N. Engl. J. Med. 332:1475-1480.
25. Chu, C.S., Trapnell, B.C., Curristin, S., Cutting, G.R., and Crystal, R.G. 1993. Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA. Nat. Genet. 3:151-156.
26. Morell, R.J., et al. 1998. Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness. N. Engl. J. Med. 339:1500-1505.
27. Maugeri, A., et al. 1999. The 2588G→C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease. Am. J. Hum. Genet. 64:1024-1035.
28. Huang, M., Gu, G., Ferguson, E.L., and Chalfie, M. 1995. A stomatin-like protein necessary for mechanosensation in C. elegans. Nature. 378:292-295.
29. Rajaram, S., Sedensky, M.M., and Morgan, P.G. 1998. Unc-1: A stomatin homologue controls sensitivity to volatile anesthetics in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA. 95:8761-8766.
30. Stewart, G.W. 1993. The membrane defect in hereditary stomatocytosis. Baillieres Clin. Haematol. 6:371-399.
31. Snyets, L., Thines-Sempoux, D., and Prohaska, R. 1997. Colocalization of stomatin (band 7.2b) and actin microfilaments in UAC epithelial cells. Eur. J. Cell. Biol. 73:281-285.