Clinical features
Mutations in KIAA1109 cause Alkuraya-Kucinskas syndrome, a disorder characterized by brain malformations, developmental delay, weak muscle tone, facial dysmorphism, eye movement abnormalities, joint contractures and abnormalities affecting other organ systems, such as the heart and kidneys. Most affected individuals die in utero or soon after birth, and the few who survive suffer from the various symptoms of this severe disorder and may have seizures and variable intellectual disability.
Prevalence
Prevalence of mutations in KIAA1109 or Alkuraya-Kucinskas syndrome is 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.