Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1)

Prenatal Diagnosis

Volumn 23, Issue 4, 2003, Pages 323-324

  Kestilä, Marjo ^a   Järvelä, Irma ^b  

^a NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; NEPHRIN;

BIRTH WEIGHT; CARBOXY TERMINAL SEQUENCE; CELL ADHESION; DIALYSIS; EXON; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; GLOMERULUS FILTRATION; HUMAN; KIDNEY TRANSPLANTATION; MATERNAL BLOOD; NEPHRECTOMY; NEPHROTIC SYNDROME; NOTE; NUCLEOTIDE SEQUENCE; PODOCYTE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEINURIA;

ADULT; FEMALE; GLYCOPROTEINS; HUMANS; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PREGNANCY; PRENATAL DIAGNOSIS; PROTEINS; REPTILIAN PROTEINS;

GLOMERULUS;

EID: 0037392085     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.589     Document Type: Note

References (16)

1. Aya K, Tanaka H, Seino Y. 2000. Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type. Kidney Int 57: 401-404.
2. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K. 2001. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 17: 368-373.
3. Bolk S, Puffenberger EG, Hudson J, Morton DH, Chakravarti A. 1999. Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites. Am J Hum Genet 65: 1785-1790.
4. Holmberg C, Jalanko H, Tryggvason K, Rapola J. 1999. Congenital nephrotic syndrome. In Pediatric Nephrology (4th edn), Barratt TM, Avner ED, Harmon WE (eds). Lippincott Williams and Wilkins: Baltimore; 765-777.
5. Huttunen NP, Rapola J, Vilska J, Hallman N. 1980. Renal pathology in congenital nephrotic syndrome of the Finnish type: a quantitative light microscopic study on 50 patients. Int J Pediatr Nephrol 1: 10-16.
6. Kestilä M, Lenkkeri U, Männikkö M, et al. 1998. Positionally cloned gene for a novel glomerular protein - nephrin - is mutated in congenital nephrotic syndrome. Mol Cell 1: 575-582.
7. Koziell A, Grech V, Hussain S, et al. 2002. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol 11: 379-388.
8. Lenkkeri U, Männikkö M, McCready P, et al. 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.
9. Liu L, Done SC, Khoshnoodi J, et al. 2001. Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome. Hum Mol Genet 10: 2637-2644.
10. Männikkö M, Kestilä M, Lenkkeri U, et al. 1997. Improved prenatal diagnosis of the congenital nephrotic syndrome of the Finnish type based on DNA analysis. Kidney Int 51: 868-872.
11. Norio R. 1966. Heredity in the congenital nephrotic syndrome. Ann Pediatr Fenn 12(Suppl. 27): 1-94.
12. Patrakka J, Kestilä M, Wartiovaara J, et al. 2000. Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients. Kidney Int 58: 972-980.
13. Patrakka J, Martin P, Salonen R, et al. 2002. Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Lancet 359: 1575-1577.
14. Ruotsalainen V, Ljungberg P, Wartiovaara J, et al. 1999. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci USA 96: 7962-7967.
15. Ruotsalainen V, Patrakka J, Tissari P, et al. 2000. Role of nephrin in cell junction formation in human nephrogenesis. Am J Pathol 157: 1905-1916.
16. Seppälä M, Rapola J, Huttunen NP, Aula P, Karjalainen O, Ruoslahti E. 1976. Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of amniotic-fluid and maternal serum alpha-fetoprotein. Lancet 17: 123-125.