Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

Nephrology Dialysis Transplantation

Volumn 21, Issue 8, 2006, Pages 2301-2303

  Caridi, Gianluca ^a   Dagnino, Monica ^a   Trivelli, Antonella ^a   Emma, Francesco ^b   Perfumo, Francesco ^a   Ghiggeri, Gian Marco ^a  

^a G GASLINI INSTITUTE   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

Mutation analysis; Nephronophthisis

Indexed keywords

ARGININE; DESMOPRESSIN; GENE PRODUCT; NEPHROCYSTIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; DISEASE ASSOCIATION; ECHOGRAPHY; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; ITALY; KIDNEY CONCENTRATING CAPACITY; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEPHRONOPHTHISIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POLYDIPSIA; POLYURIA; PREVALENCE; PRIORITY JOURNAL; STOP CODON;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; ITALY; MALE; MEMBRANE PROTEINS; NEPHRITIS, INTERSTITIAL; PEDIGREE; POLYCYSTIC KIDNEY DISEASES; PROTEINS; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 33748051702     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfl277     Document Type: Article

References (15)

1. Saunier S, Salomon R, Antignac C. Nephronophthisis. Curr Opin Genet Dev 2005; 15: 324-331
2. Hildebrandt F, Otto E, Rensing C et al. A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1. Nat Genet 1997; 17: 149-153
3. Otto EA, Schermer B, Obara T et al. Mutations in INVS encoding inversin cause nephronoplithisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. Nat Genet 2003; 34: 413-420
4. Olbrich H, Fliegauf M, Hoefele J et al. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet 2003; 34: 455-459
5. Mollet G, Salomon R, Gribouval O et al. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin. Nat Genet 2002; 32: 300-305
6. Otto EA, Loeys B, Khanna H et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin. Nat Genet 2005; 37: 282-288
7. Konrad M, Saunier S, Heidet L et al. Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. Hum Mol Genet 1996; 5: 367-371
8. Saunier S, Calado J, Heilig R et al. A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis. Hum Mol Genet 1997; 6: 2317-2323
9. Caridi G, Dagnino M, Gusmano R et al. Clinical and molecular heterogeneity of juvenile nephronophthisis in Italy: Insights from molecular screening. Am J Kidney Dis 2000; 35: 44-51
10. Betz R, Rensing C, Otto E et al. Children with ocular motor apraxia type Cogan carry deletions in the gene (NPHP1) for juvenile nephronophthisis. J Pediatr 2000; 136: 828-831
11. Saunier S, Calado J, Benessy F et al. Characterization of the NPHP1 locus: Mutational mechanism involved in deletions in familial juvenile nephronophthisis. Am J Hum Genet 2000; 66: 778-789
12. Hildebrandt F, Rensing C, Betz R et al. Establishing an algorithm for molecular genetic diagnostics in 127 families with juvenile nephronophthisis. Kidney Int 2001; 59: 434-445
13. Parisi MA, Bennett CL, Eckert ML et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. Am J Hum Genet 2004; 75: 82-91
14. Heninger E, Otto E, Imm A, Caridi G, Hildebrandt F. Improved strategy for molecular genetic diagnostics in juvenile nephronophthisis. Am J Kidney Dis 2001; 37: 1131-1139
15. Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comput Biol 1997; 4: 311-323