CEP290

On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.

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A maternally inherited heterozygous change in the CEP290 gene was identified in a UDN participant with heart abnormalities, global developmental delay, brain MRI abnormality, and seizures (infantile spasms) that are now well-treated and controlled (read full description).

Date of Report

Feb 23, 2023

Full Name

Centrosomal Protein 290

Location

Chromosome 12 (12q21.32)

Function

CEP290 gene is involved in the early and late steps of cilia formation (Tsang et al., 2008). It may play a role in early ciliogenesis and is required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes (Kobayashi et al., 2014). Additionally, it is involved in the regulation of the BBSome complex integrity and in ciliary targeting of selected BBSome cargos. It may also play role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 (Barbelanne et al., 2015). Lastly, it activates ATF4-mediated transcription (Sayer et al., 2006).

Database Links

GeneCards: CEP290

MedlinePlus Genetics: CEP290 gene

NCBI Gene: 80184

OMIM: 610142

UniProtKB/Swiss-Prot: O15078

Clinical Significance

A maternally inherited heterozygous change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene CEP290

Inheritance Pattern Autosomal recessive

Position (hg19) chr12:g.88453674C>T

Transcript NM_025114.4

DNA Change c.6645+1G>A

Protein Change N/A

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