Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)

Nephrology Dialysis Transplantation

Volumn 25, Issue 9, 2010, Pages 2970-2976

  Schoeb, Dominik S ^a,b   Chernin, Gil ^a   Heeringa, Saskia F ^a   Matejas, Verena ^b   Held, Susanne ^a   Vega Warner, Virginia ^a   Bockenhauer, Detlef ^c   Vlangos, Christopher N ^a   Moorani, Khemchand N ^d   Neuhaus, Thomas J ^e   Kari, Jameela A ^f   MacDonald, James ^a   Saisawat, Pawaree ^a   Ashraf, Shazia ^a   Ovunc, Bugsu ^a   Zenker, Martin ^b   Hildebrandt, Friedhelm ^a,g  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d NATIONAL INSTITUTE OF CHILD HEALTH   (Pakistan)

^e UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^f KING ABDUL AZIZ UNIVERSITY HOSPITAL   (Saudi Arabia)

^g HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

mutation analysis; nephrotic syndrome; NPHS1

Indexed keywords

CAPTOPRIL; CYCLOSPORIN A; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; INDOMETACIN; LOSARTAN; NEPHRIN; STEROID;

ARTICLE; CHILD; CLINICAL FEATURE; CONGENITAL NEPHROTIC SYNDROME; ETHNICITY; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; INFANT; KIDNEY BIOPSY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SPLICE SITE MUTATION;

COHORT STUDIES; EXONS; FAMILY; FEMALE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; NEPHROTIC SYNDROME; PHENOTYPE; PROGNOSIS; WORLD HEALTH;

EID: 77956259962     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfq088     Document Type: Article

References (25)

1. Kestila M, Lenkkeri U, Mannikko M et al. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome. Mol Cell 1998; 1: 575-582
2. Ruotsalainen V, Ljungberg P, Wartiovaara J et al. Nephrin is specifically located at the slit diaphragm of glomerular podocytes. Proc Natl Acad Sci U S A 1999; 96: 7962-7967
3. Khoshnoodi J, Sigmundsson K, Ofverstedt LG et al. Nephrin promotes cell-cell adhesion through homophilic interactions. Am J Pathol 2003; 163: 2337-2346
4. Jones N, Blasutig IM, Eremina V, et al. Nck adaptor proteins link nephrin to the actin cytoskeleton of kidney podocytes. Nature 2006; 440: 818-823
5. Quack I, Rump LC, Gerke P et al. beta-Arrestin2 mediates nephrin endocytosis and impairs slit diaphragm integrity. Proc Natl Acad Sci U S A 2006; 103: 14110-14115
6. 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
7. Beltcheva O, Martin P, Lenkkeri U, Tryggvason K. Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome. Hum Mutat 2001; 17: 368-373
8. Holmberg C, Tryggvason K, Kestila M, Jalanko H. Congenital Nephrotic Syndrome. In: Avner E, Harmon WE, Niaudet P (eds). Pediatric Nephrology. 5th edn. Philadelphia; Lippincott Williams and Wilkins, 2004
9. Qvist E, Laine J, Ronnholm K et al. Graft function 5-7 years after renal transplantation in early childhood. Transplantation 1999; 67: 1043-1049
10. Norio R. Heredity in the congenital nephrotic syndrome. A genetic study of 57 Finnish families with a review of reported cases. Ann Paediatr Fenn 1966; 12: 21-94
11. Huttunen NP. Congenital nephrotic syndrome of Finnish type. Study of 75 patients. Arch Dis Child 1976; 51: 344-348
12. Kuusniemi AM, Merenmies J, Lahdenkari AT et al. Glomerular sclerosis in kidneys with congenital nephrotic syndrome (NPHS1). Kidney Int 2006; 70: 1423-1431
13. 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
14. APN. Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Lancet 1988; 380-383
15. 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
16. Hinkes B, Wiggins RC, Gbadegesin R et al. Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible. Nat Genet 2006; 38: 1397-1405
17. Ruf RG, Schultheiss M, Lichtenberger A et al. Prevalence of WT1 mutations in a large cohort of patients with steroid-resistant and steroid-sensitive nephrotic syndrome. Kidney Int 2004; 66: 564-570
18. Mucha B, Ozaltin F, Hinkes BG et al. Mutations in the Wilms tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9. Pediatr Res 2006; 59: 325-331
19. Heeringa SF, Vlangos CN, Chernin G et al. Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome. Nephrol Dial Transplant 2008; 23: 3527-3533
20. Hildebrandt F, Heeringa SF, Ruschendorf F et al. A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 2009; 5: e1000353
21. Gudbjartsson DF, Jonasson K, Frigge ML, Kong A. Allegro, a new computer program for multipoint linkage analysis. Nat Genet 2000; 25: 12-13
22. Ruschendorf F, Nurnberg P. ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics 2005; 21: 2123-2125
23. ISKDC. Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A report of the International Study of Kidney Disease in children. Kidney Int 1981; 20: 765-771
24. Kitamura A, Tsukaguchi H, Hiramoto R et al. A familial childhoodonset relapsing nephrotic syndrome. Kidney Int 2007; 71: 946-951
25. Khoshnoodi J, Hill S, Tryggvason K, Hudson B, Friedman DB. Identification of N-linked glycosylation sites in human nephrin using mass spectrometry. J Mass Spectrom 2007; 42: 370-379