Clinical features
Mutations in the FBXL4 gene causes a disease called encephalomyopathic mitochondrial DNA depletion syndrome, which affects multiple body systems and is primarily associated with brain dysfunction and muscle weakness. It is often fatal in early childhood.
Prevalence
The prevalence of FBXL4-related conditions is estimated to be one in one million to one in four hundred thousand.
Inheritance
Mutations of this gene can be passed on to the next generation in an autosomal recessive manner. This means that if both parents carry a mutation involving this gene (usually without displaying the disease), there is a greater chance that their children are going to inherit the mutations from both parents and display the disease. This is especially important to consider in consanguineous marriage, where the chance of both parents having the same mutation and passing it is greater.