Clinical features
Mutations in the PTPN23 gene may cause developmental and epileptic encephalopathy, a disorder characterized by brain atrophy, global developmental delay, uncontrollable seizures, and early death.
Prevalence
The prevalence of PTPN23-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.