Clinical features
Mutations in the ELOVL4 gene may cause one of three diseases: Stargardt Macular Degeneration type 3, Spinocerebellar Ataxia type 34, or Ichthyosis, Spastic Quadriplegia, and Intellectual Disability syndrome.
Prevalence
The prevalence of ELOVL4-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.
The mutation(s) may also pass to the next generation in an autosomal dominant manner. This means that if one parent carries a mutation involving this gene, there is a 50% chance of passing it to the children. If both parents carry the mutation, there is a 50% chance of the child being affected (by inheriting one copy of the disease gene and one copy of the normal gene) and a 25% chance of the offspring inheriting both copies of the disease gene, resulting in death usually in the embryonic or fetal stage. Parents carrying the mutation in autosomal dominant form usually manifest the symptoms of the disease.