Clinical features
Mutations in the TSEN15 gene may cause pontocerebellar hypoplasia type 2F, a disorder that is characterized by progressive microcephaly (abnormally small head), with intellectual disability, seizures, and other variable features.
Prevalence
The prevalence of TSEN15-related conditions cannot be accurately estimated due to the limited number of cases reported.
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.