RGD Reference Report - The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. - Rat Genome Database

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Authors: Delous, M  Baala, L  Salomon, R  Laclef, C  Vierkotten, J  Tory, K  Golzio, C  Lacoste, T  Besse, L  Ozilou, C  Moutkine, I  Hellman, NE  Anselme, I  Silbermann, F  Vesque, C  Gerhardt, C  Rattenberry, E  Wolf, MT  Gubler, MC  Martinovic, J  Encha-Razavi, F  Boddaert, N  Gonzales, M  Macher, MA  Nivet, H  Champion, G  Bertheleme, JP  Niaudet, P  McDonald, F  Hildebrandt, F  Johnson, CA  Vekemans, M  Antignac, C  Ruther, U  Schneider-Maunoury, S  Attie-Bitach, T  Saunier, S 
Citation: Delous M, etal., Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.
RGD ID: 11073359
Pubmed: (View Article at PubMed) PMID:17558409
DOI: Full-text: DOI:10.1038/ng2039

Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of developmental autosomal recessive disorders that are associated with primary cilium dysfunction. Using SNP mapping, we identified missense and truncating mutations in RPGRIP1L (KIAA1005) in both CORS and MKS, and we show that inactivation of the mouse ortholog Rpgrip1l (Ftm) recapitulates the cerebral, renal and hepatic defects of CORS and MKS. In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy). In addition, the RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4. Our findings show that mutations in RPGRIP1L can cause the multiorgan phenotypic abnormalities found in CORS or MKS, which therefore represent a continuum of the same underlying disorder.


Disease Annotations    

Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Rpgrip1l  (Rpgrip1-like)

Genes (Mus musculus)
Rpgrip1l  (Rpgrip1-like)

Genes (Homo sapiens)

Additional Information