Protein JBTS17
Das bisher noch nicht genauer charakterisierte Gen CPLANE1 ist für die autosomal rezessiven Erkankungen Joubert-Syndrom 17 und orofaciodigitales Syndrom 6 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Joubert M et al. (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
|
2. |
Srour M et al. (2012) Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population.
|
3. |
Damerla RR et al. (2015) Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies.
|
4. |
Darmency-Stamboul V et al. (2013) Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.
|
5. |
Lopez E et al. (2014) C5orf42 is the major gene responsible for OFD syndrome type VI.
|
6. |
Orphanet article
Orphanet ID 299619
|
7. |
NCBI article
NCBI 65250
|
8. |
OMIM.ORG article
Omim 614571
|
Update: 14. August 2020