A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome

Nephrology

Volumn 9, Issue 5, 2004, Pages 310-312

  Ozer, Esra Arun ^a,d   Aksu, Nejat ^a   Erdogan, Hakan ^a   Yavascan, Onder ^a   Kara, Orhan ^a   Gribouval, Olivier ^b   Gubler, Marie Claire ^b   Antignac, Corinne ^c  

^a Clinics of Pediatrics   (Turkey)

^b INSERM   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d NONE   (Turkey)

Author keywords

Children; Mutational analysis; NPHS2 gene; Podocin; Steroid resistant nephrotic syndrome

Indexed keywords

STEROID;

ARTICLE; CASE REPORT; CHILD; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; NEPHROTIC SYNDROME; NPHS2 GENE; PRIORITY JOURNAL; PROGNOSIS; SIBLING; TURKEY (REPUBLIC);

DRUG RESISTANCE; FEMALE; HUMANS; INFANT; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; STEROIDS; TURKEY;

EID: 9644281040     PISSN: 13205358     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1440-1797.2004.00324.x     Document Type: Article

References (10)

1. Holmberg C, Jalanlo H, Tryggvason K, Rapola J. Congenital nephrotic syndrome. In: Barratt TM, Avner ED, Harmon WE, eds. Pediatric Nephrology, 4th edn. Philadelphia: Lippincott Williams and Wilkins, 1999; 765-77.
2. Antignac C. Genetic models: Clues for understanding the pathogenesis of idiopathic nephrotic syndrome. J. Clin. Invest. 2002; 109: 447-9.
3. Boute N, Gribouval O, Roselli S et al. NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome. Nat. Genet. 2000; 24: 349-54.
4. Kaplan JM, Kim SH, North KN et al. Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis. Nat. Genet. 2000; 24: 251-6.
5. Roselli S, Moutkine I, Gribouval O, Benmerah A, Antignac C. Plasma membrane targeting of podocin through the classical exocytic pathway: Effect of NPHS2 mutations. Traffic 2004; 5: 1-8.
6. Huber TB, Kottgen M, Schilling B, Walz G, Benzing T. Interactions with podocin facilitates nephrin signaling. J. Biol. Chem. 2001; 276: 41 543-6.
7. Sellin L, Huber TB, Gerke P, Quack I, Pavenstadt H, Walz G. NEPH1 defines a novel family of podocin interacting proteins. FASEB J. 2003; 17: 115-17.
8. Karle SM, Uetz B, Ronner V, Glaeser L, Hildebrandt F, Fuchshuber A. Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome. J. Am. Soc. Nephrol. 2002; 13: 388-93.
9. Khoshnoodi J, Tryggvason K. Congenital nephrotic syndromes. Curr. Opin. Gen. Dev. 2001; 11: 322-7.
10. Caridi G, Bertelli R, Di Duca M et al. Broadening the spectrum of diseases related to podocin mutations. J. Am. Soc. Nephrol. 2003; 14: 1278-86.