Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The gene RPGRIP1L encodes a centrosome associated protein involved in microtubule organization. Mutations cause various autosomal recessive ciliopathies such as Meckel syndrome 5, Joubert syndrome 7, nephronophthisis 08 and COACH syndrome.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies. 
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| 2. |
Nagase T et al. (1999) Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
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| 3. |
Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
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| 4. |
Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
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| 5. |
Arts HH et al. (2007) Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
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| 6. |
Delous M et al. (2007) The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
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| 7. |
Brancati F et al. (2008) RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
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| 8. |
Wolf MT et al. (2007) Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisis.
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| 9. |
OMIM.ORG article Omim 610937
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| 10. |
Orphanet article Orphanet ID 140541
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| 11. |
NCBI article NCBI 23322
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| 12. |
Wikipedia article Wikipedia EN (RPGRIP1L)
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