Below is a summary for the CUL3 gene observed in research publications. This is not meant to take the place of medical advice.
This latest report includes updated information about Simons Searchlight participants with CUL3-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is CUL3-related neurodevelopmental disorder?
CUL3-related neurodevelopmental disorder happens when there are changes to the CUL3 gene. These changes can keep the gene from working as it should.
Changes in the CUL3 gene can also cause another condition called pseudohypoaldosteronism type 2A (PHA2) or Gordon’s syndrome.
Gene changes that cause PHA2 occur in specific regions of CUL3: regions called intron 8, exon 9 or intron 9. Gene changes that cause CUL3-related syndrome are thought to occur in other regions of the gene.
The information below covers gene changes that lead to CUL3-related neurodevelopmental disorder.
The CUL3 gene is involved in several developmental processes in the body, including regulation of the cell cycle, response to stress, cell-to-cell communication, DNA replication, and the circadian rhythm.
Because the CUL3 gene is important for the proper function of the body’s cells, some people may have:
- Heart defects
- Difficulty feeding
- Global development delay
- Intellectual disability
- Speech difficulty
- Issue with walking
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have CUL3-related neurodevelopmental disorder look different?
CUL3-related neurodevelopmental disorder is very rare, and it is unknown if people with this condition look different. Some people have had a smaller than average head size.
How many people have CUL3-related syndrome?
As of 2023, about 21 people with CUL3-related syndrome have been described in medical research. Only seven people have been described in detail.
Research Article Summaries
Previous Registry Reports