Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 09

Joubert syndrome type 9 is an autosomal recessive disorder caused by mutations in the CC2D2A gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
CC2D2A
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35

References:

1.

Lee JE et. al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.

[^]
2.

Noor A et. al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.

[^]
3.

Gorden NT et. al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

[^]
4.

Bachmann-Gagescu R et. al. (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.

[^]
Update: Sept. 26, 2018