Nephronophthisis: Diagnostic difficulties and recent advances in molecular genetic diagnostics

Clinical and Experimental Nephrology

Volumn 9, Issue 4, 2005, Pages 340-342

  Komatsuda, Atsushi ^a   Wakui, Hideki ^a  

^a AKITA UNIVERSITY   (Japan)

Author keywords

Molecular genetic diagnostics; Nephrocystin; Nephronophthisis

Indexed keywords

ANEMIA; DIAGNOSTIC PROCEDURE; EDITORIAL; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; KIDNEY FAILURE; MOLECULAR GENETICS; NEPHRONOPHTHISIS; NEPHRONOPHTHISIS 1 GENE; NEPHRONOPHTHISIS 2 GENE; NEPHRONOPHTHISIS 3 GENE; NEPHRONOPHTHISIS 4 GENE; NEPHRONOPHTHISIS 5 GENE; POLYDIPSIA; POLYURIA; UREMIA;

GENETIC SCREENING; HUMANS; KIDNEY FAILURE, CHRONIC; POLYCYSTIC KIDNEY DISEASES;

EID: 29144483488     PISSN: 13421751     EISSN: 14377799     Source Type: Journal    
DOI: 10.1007/s10157-005-0383-6     Document Type: Editorial

References (12)

1. F Hildebrandt P Jungers C Robino J-P Grünfeld 2001 Nephronophthisis, medullary cystic and medullary sponge kidney disease RW Schrier Diseases of the kidney and urinary tract 7th ed. Lippincott Williams & Wilkins Philadelphia 521 46
2. F Hildebrandt E Otto C Rensing HG Nothwang M Vollmer J Adolphs 1997 A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1 Nat Genet 17 149 53
3. EA Otto B Schermer T Obara JF O'Toole KS Hiller AM Mueller 2003 Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination Nat Genet 34 413 20
4. H Olbrich M Fliegauf J Hoefele A Kispert E Otto A Volz 2003 Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis Nat Genet 34 455 9
5. G Mollet R Salomon O Gribouval F Silbermann D Bacq G Landthaler 2002 The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin Nat Genet 32 300 5
6. EA Otto B Loeys H Khanna J Hellemans R Sudbrak S Fan 2005 Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin Nat Genet 37 282 8
7. S Saunier J Calado F Benessy F Silbermann R Heilig J Weissenbach 2000 Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis Am J Hum Genet 66 778 89
8. J Hoefele R Sudbrak R Reinhardt S Lehrack S Hennig A Imm 2005 Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis Hum Mutat 25 411
9. S Saunier R Salomon C Antignac 2005 Nephronophthisis Curr Opin Genet Dev 15 324 31
10. M Ashizawa M Miyazaki A Furusu K Abe Y Kanamoto N Iwanaga 2005 Nephronophthisis in two siblings Clin Exp Nephrol 9 320 5
11. F Hildebrandt C Rensing RC Betz U Sommer S Birnbaum A Imm 2001 Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis Kidney Int 59 434 45
12. K Takano T Nakamoto M Okajima A Sudo K Uetake S Saitoh 2003 Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I Pediatr Neurol 28 142 4