ADP-Ribosylierungsfaktor-like Protein 13B
Das ARL13B-Gen kodiert eine GTPase die ein Funktion bei der Zilienbildung und -Erhaltung besitzt. Mutationen führen zu autosomal rezessivem Joubert-Syndrom 8.
Gentests:
| Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
| Bearbeitungszeit |
5 Tage |
| Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
| 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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Update: 29. April 2019
