Clinical features
Autosomal recessive mutations in the AP1B1 gene cause autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR), which is characterized by ichthyosis (dry, scaly, thickened skin), erythroderma (generalized reddening of the skin), and hearing loss with failure to thrive and developmental delay in childhood. Other signs and symptoms that may or may not be present include diseases of the intestines, variable facial dysmorphism, and palmoplantar keratoderma (thickening of the palms and soles).
Prevalence
The prevalence of KIDAR 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 to their children is greater.