1. What is the WDR83OSgene?
• The WDR83OSgene makes a small protein called Asterix.
• This protein works with another protein (CCDC47) in a team called the PAT complex, which helps other proteins fold correctly inside cells—especially those that sit in cell membranes.
2. What kind of mutations are found?
All affected individuals have mutations in both copies of the WDR83OSgene (one from each parent). These mutations are mostly:
Stop mutations: These cause the protein to be cut short and not work properly.
Splice site mutations: These interfere with how the gene is read and processed, leading to missing or faulty parts of the protein.
Small deletions: These remove a few building blocks of the gene, also leading to a broken protein.
3. What do these mutations do?
They cause the Asterix protein to be missing or non-functional. Without Asterix, the PAT complex can’t do its job properly. This leads to problems in:
Brain development (causing developmental delays and intellectual disability)
Liver function (leading to high bile acids and itching)
Fat absorption (causing poor growth and digestive issues)
4. How does this affect the body?
Even when liver testing results are OK, bile acids build up in the blood, causing severe itching. The brain doesn’t develop as expected, leading to delays in walking, talking, and learning. The body may not absorb fats well, which can lead to poor weight gain and vitamin deficiencies.