Clinical features
Mutations in the ALKBH8 genemay cause a disorder called intellectual developmental disorder-71 (MRT71), which is characterized by intellectual disability, delayed development, and epilepsy. Other signs and symptoms that may or may not be present include mild facial dysmorphism, attention deficit hyperactivity disorder, and prune belly syndrome (a condition characterized by lack of abdominal muscles leading to a wrinkly appearance of the abdomen). However, it remains unclear at this point if prune belly syndrome was caused by ALKBH8 mutation or an alternative yet to be defined aetiology.
Prevalence
The prevalence of MRT71 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.