Families

What is the WDR4gene?
The WDR4gene provides instructions for making a protein that works together with another protein, called METTL1. Together, these two proteins help modify small molecules in our cells called tRNAs. tRNAs play an important role in making proteins, which are the building blocks and “workers” of our bodies. WDR4 does not do the chemical work by itself, but it is essential for the METTL1–WDR4 pair to work properly. This team adds a special chemical mark, called m⁷G46, to certain tRNAs. This mark helps tRNAs fold into the right shape and ensures that proteins are made accurately and efficiently.

When the WDR4gene is not working properly, these tRNAs do not function as they should, and as a result, the body may have difficulty making proteins correctly. Because growing tissues—especially the brain and kidneys—depend heavily on proper protein production, changes in the WDR4gene can lead to medical and developmental challenges.

Changes (variants) in the WDR4 gene may cause two rare genetic conditions:
•    Galloway–Mowat Syndrome type 6 (GAMOS6)
A condition that affects the brain and the kidneys.

•    Microcephaly, Growth Deficiency, Seizures, and Brain Malformations (MIGSB)
A condition mainly affecting brain development, growth, and movement.

Both conditions are very rare and can vary widely in how they appear in different children. Additionally, both disorders are inherited in an autosomal recessive way.