Parents

Clinical features
CTU2 is a gene that helps make a protein that plays a role in the proper and accurate translation of DNA in your body into functional proteins. CTU2 is mainly important for the development and function of the brain, facial structure, kidneys, and heart. Sometimes, people can have two copies of a faulty CTU2 gene that do not work properly. This can cause a very serious condition called microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG). As the name suggests, individuals with MFRG may have a smaller head (microcephaly), missing or underdeveloped kidneys (renal agenesis), ambiguous or atypical genitalia, and facial features that are different from typical appearance. Additionally, affected individuals may also have other variable features such as abnormalities in the brain, heart, and skeleton.

Prevalence
Largely unknown due to limited data.

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.