Genetic Syndromes & Genetics
CEP290 gene
The CEP290 gene is a gene that, when altered, is associated with some conditions that can include encephalocele.
In short: CEP290 gene
- Changes in it are linked to certain ciliopathies.
- Some associated conditions can include encephalocele.
- It is one of several genes relevant to syndromic encephalocele.
- Genetic testing can identify changes in it.
What it is
It is a gene that, when altered, is associated with a group of conditions affecting cell structures called cilia (ciliopathies). Some of these conditions — such as certain forms of Meckel-Gruber and Joubert syndromes — can include an encephalocele.
Understanding CEP290 gene
Changes in CEP290 are one example of how specific genes can underlie syndromic forms of encephalocele. It is one of several genes relevant to the ciliopathies that can include encephalocele, and genetic testing can identify changes in it. Identifying a specific gene change can help clarify the diagnosis, the outlook, and recurrence risk for a family.
Why it matters
Understanding the role of genes like CEP290 helps families see how genetic testing can pinpoint a specific cause for a syndromic encephalocele, which can inform the outlook and recurrence risk.
Common questions
What is the CEP290 gene linked to?
Certain ciliopathies, some of which can include encephalocele.
Is it the only relevant gene?
No — it is one of several.
How are changes in it found?
Through genetic testing.
Bottom line
The CEP290 gene, when altered, is associated with certain ciliopathies that can include encephalocele.
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