RGD Reference Report - Evidence of oligogenic inheritance in nephronophthisis. - Rat Genome Database

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Evidence of oligogenic inheritance in nephronophthisis.

Authors: Hoefele, J  Wolf, MT  O'toole, JF  Otto, EA  Schultheiss, U  Deschenes, G  Attanasio, M  Utsch, B  Antignac, C  Hildebrandt, F 
Citation: Hoefele J, etal., J Am Soc Nephrol. 2007 Oct;18(10):2789-95. Epub 2007 Sep 12.
RGD ID: 11065524
Pubmed: PMID:17855640   (View Abstract at PubMed)
DOI: DOI:10.1681/ASN.2007020243   (Journal Full-text)

Nephronophthisis is a recessive cystic renal disease that leads to end-stage renal failure in the first two decades of life. Twenty-five percent of nephronophthisis cases are caused by large homozygous deletions of NPHP1, but six genes responsible for nephronophthisis have been identified. Because oligogenic inheritance has been described for the related Bardet-Biedl syndrome, we evaluated whether mutations in more than one gene may also be detected in cases of nephronophthisis. Because the nephrocystins 1 to 4 are known to interact, we examined patients with nephronophthisis from 94 different families and sequenced all exons of the NPHP1, NPHP2, NPHP3, and NPHP4 genes. In our previous studies involving 44 families, we detected two mutations in one of the NPHP1-4 genes. Here, we detected in six families two mutations in either NPHP1, NPHP3, or NPHP4, and identified a third mutation in one of the other NPHP genes. Furthermore, we found possible digenic disease by detecting one individual who carried one mutation in NPHP2 and a second mutation in NPHP3. Finally, we detected the presence of a single mutation in nine families, suggesting that the second recessive mutation may be in another as yet unidentified NPHP gene. Our findings suggest that oligogenicity may occur in cases of nephronophthisis.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
NPHP1Humannephronophthisis  IAGP DNA:deletions and nonsense mutations:cds:multipleRGD 
NPHP3Humannephronophthisis  IAGP DNA:missense mutations more ...RGD 
NPHP4Humannephronophthisis  IAGP DNA:deletion more ...RGD 
Nphp1Ratnephronophthisis  ISONPHP1 (Homo sapiens)DNA:deletions and nonsense mutations:cds:multipleRGD 
Nphp1Mousenephronophthisis  ISONPHP1 (Homo sapiens)DNA:deletions and nonsense mutations:cds:multipleRGD 
Nphp3Mousenephronophthisis  ISONPHP3 (Homo sapiens)DNA:missense mutations more ...RGD 
Nphp3Ratnephronophthisis  ISONPHP3 (Homo sapiens)DNA:missense mutations more ...RGD 
Nphp4Ratnephronophthisis  ISONPHP4 (Homo sapiens)DNA:deletion more ...RGD 
Nphp4Mousenephronophthisis  ISONPHP4 (Homo sapiens)DNA:deletion more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Nphp1  (nephrocystin 1)
Nphp3  (nephrocystin 3)
Nphp4  (nephrocystin 4)

Genes (Mus musculus)
Nphp1  (nephronophthisis 1 (juvenile) homolog (human))
Nphp3  (nephronophthisis 3 (adolescent))
Nphp4  (nephronophthisis 4 (juvenile) homolog (human))

Genes (Homo sapiens)
NPHP1  (nephrocystin 1)
NPHP3  (nephrocystin 3)
NPHP4  (nephrocystin 4)


Additional Information