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

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

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

5.	OMIM.ORG article Omim 612285

Update: June 23, 2025

Copyright © 2005-2025 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits