33% of patients with CEP-290 isolated Leber Congenital Amaurosis ascertained by Coppieters et al., 2010, also presented with mental retardation and/or autism, in contrast to only 8% of patients with mutations in other LCA-related genes; most specifically, three patients with CEP290-related LCA and one patient with CEP290-related Senior-Loken syndrome presented with autism in this report.
Molecular Function
Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition. Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes. Defects in this gene are associated with several diseases, including Joubert syndrome 5 (JBTS5) [MIM:610188], Senior-Loken syndrome 6 (SLSN6) [MIM:610189], Leber congenital amaurosis 10 (LCA10) [MIM:611755], Meckel syndrome 4 (MKS4) [MIM:611134], and Bardet-Biedl syndrome 14 (BBS14) [MIM:209900].
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes.
Model Type:
Genetic
Model Genotype:
Wild type
Mutation:
6ng splice-blocking MOs against cep290 were injected into wild-type zebrafish embryos at the 1- to 2-cell stage.
Allele Type: Loss of Function
Strain of Origin: Not specified
Genetic Background: Not specified
ES Cell Line: Not specified
Mutant ES Cell Line: Not specified
Model Source: 25937446
Description: Injection of cep290 morpholino alone reduced bilateral HuC/D expression compared to controls.
Exp Paradigm: Injected embryos were stained with HuC/D antibody. Anti-HuC/D is a marker for post- mitotic neurons, i.e., cells positive for HuC and HuD (also known as ELAVL3 and ELAVL4).
Description: Injection of cep290 morpholino alone increased ectopic HuC/D expression compared to controls.
Exp Paradigm: Injected embryos were stained with HuC/D antibody. Anti-HuC/D is a marker for post- mitotic neurons, i.e., cells positive for HuC and HuD (also known as ELAVL3 and ELAVL4).
Description: Cep290 morpholino injection increased unilateral HuC/D expression compared to controls.
Exp Paradigm: Injected embryos were stained with HuC/D antibody. Anti-HuC/D is a marker for post- mitotic neurons, i.e., cells positive for HuC and HuD (also known as ELAVL3 and ELAVL4).
