What causes Usher syndrome?
Usher syndrome is inherited, which means that it is passed from parents to their children through genes. Genes are located in almost every cell of the body. Genes contain instructions that tell cells what to do. Each person inherits two copies of each gene, one from each parent. Sometimes genes are altered, or mutated. Mutated genes may cause cells to act differently than expected.
Usher syndrome is inherited as an autosomal recessive trait. The term autosomal means that the mutated gene is not located on either of the chromosomes that determine a person's sex; in other words, both males and females can inherit Usher syndrome and can pass the Usher gene to their child. The word "recessive" means that to have Usher syndrome, an individual must receive a mutated form of the Usher syndrome gene from each parent. If a child has a mutation in one Usher syndrome gene but the other gene is normal, he or she is predicted to have normal vision and hearing. Individuals with a mutation in a gene that can cause an autosomal recessive disorder are called carriers, because they “carry” the gene with a mutation but show no symptoms of the disorder. If both parents are carriers of a mutated gene for Usher syndrome, they will have a one-in-four chance of having a child with Usher syndrome with each birth.
Usually, parents who have typical hearing and vision do not know if they are carriers of an Usher syndrome gene mutation.
This content was generously provided by the National Institutes of Health. For more on Usher syndrome from the NIH, please visit their website.