Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ARL13B gene encodes a GTPase that has a function in cilia formation and maintenance. Mutations cause autosomal recessive Joubert syndrome 8.
| Clinic | 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. |
Humbert MC et al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting. 
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| 2. |
Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
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| 3. |
Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
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| 4. |
Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
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| 5. |
Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.
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| 6. |
Sun Z et al. (2004) A genetic screen in zebrafish identifies cilia genes as a principal cause of cystic kidney.
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| 7. |
Caspary T et al. (2007) The graded response to Sonic Hedgehog depends on cilia architecture.
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| 8. |
Orphanet article Orphanet ID 179401
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| 9. |
NCBI article NCBI 200894
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| 10. |
OMIM.ORG article Omim 608922
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| 11. |
Wikipedia article Wikipedia EN (ARL13B)
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