A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

NDT Plus

Volumn 3, Issue 6, 2010, Pages 545-548

  Al Hamed, Mohamed ^a,b   Sayer, John A ^b   Al Hassoun, Ibrahim ^a   Aldahmesh, Mohamed A ^a   Meyer, Brian ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

homozygosity; nephrotic syndrome; NPHS2; podocin

Indexed keywords

ALBUMIN; CAPTOPRIL; CREATININE; CYCLOSPORIN; FUROSEMIDE; NEPHRIN; PODOCIN;

ALBUMIN BLOOD LEVEL; ARTICLE; CASE REPORT; CHROMOSOME 1; CODON; CONSANGUINEOUS MARRIAGE; CREATININE BLOOD LEVEL; EXON; FOLLOW UP; GENE MUTATION; GENETIC ASSOCIATION; HEMATURIA; HOMOZYGOSITY; HUMAN; INFANT; KIDNEY BIOPSY; LONG TERM CARE; NEPHROTIC SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PROTEIN URINE LEVEL; PROTEINURIA; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78649468435     PISSN: 17530784     EISSN: 17530792     Source Type: Journal    
DOI: 10.1093/ndtplus/sfq149     Document Type: Article

References (20)

1. Koziell A, Grech V, Hussain S et al. Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration. Hum Mol Genet 2002; 11: 379-388
2. Schultheiss M, Ruf RG, Mucha BE et al. No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations. Pediatr Nephrol 2004; 19: 1340-1348
3. Sako M, Nakanishi K, Obana M et al. Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome. Kidney Int 2005; 67: 1248-1255
4. Weber S, Gribouval O, Esquivel EL et al. NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence. Kidney Int 2004; 66: 571-579
5. Hinkes BG, Mucha B, Vlangos CN et al. Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2). Pediatrics 2007; 119: e907-e919
6. Berdeli A, Mir S, Yavascan O et al. NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome. Pediatr Nephrol 2007; 22: 2031-2040
7. McKenzie LM, Hendrickson SL, Briggs WA et al. NPHS2 variation in sporadic focal segmental glomerulosclerosis. J Am Soc Nephrol 2007; 18: 2987-2995
8. Niaudet P. Genetic forms of nephrotic syndrome. Pediatr Nephrol 2004; 19: 1313-1318
9. Philippe A, Nevo F, Esquivel EL et al. Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19: 1871-1878
10. Schwarz K, Simons M, Reiser 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
11. Schwartz GJ, Haycock GB, Edelmann CM Jr. et al. A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 1976; 58: 259-263
12. Machuca E, Benoit G, Nevo Fet al. Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome. J Am Soc Nephrol 2010; 21: 1209-1217
13. Matejas V, Hinkes B, Alkandari Fet al. Mutations in the human Lam-inin beta2 (LAMB2) gene and the associated phenotypic spectrum. Hum Mutat 2010; [Epub ahead of print]
14. Hinkes B, Vlangos C, Heeringa S et al. Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome. J Am Soc Nephrol 2008; 19: 365-371
15. Faul C, Donnelly M, Merscher-Gomez S et al. The actin cytoskeleton of kidney podocytes is a direct target of the antiproteinuric effect of cyclosporine A. Nat Med 2008; 14: 931-938
16. Ransom RF, Lam NG, Hallett MA et al. Glucocorticoids protect and enhance recovery of cultured murine podocytes via actin filament stabilization. Kidney Int 2005; 68: 2473-2483
17. Hamasaki Y, Yoshikawa N, Hattori S et al. Cyclosporine and steroid therapy in children with steroid-resistant nephrotic syndrome. Pediatr Nephrol 2009; 24: 2177-2185
18. Ruf RG, Lichtenberger A, Karle SM et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J Am Soc Nephrol 2004; 15: 722-732
19. Frishberg Y, Rinat C, Megged O et al. Mutations in NPHS2 encoding podocin are a prevalent cause of steroid-resistant nephrotic syndrome among Israeli-Arab children. J Am Soc Nephrol 2002; 13: 400-405
20. 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