Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Mutation is an older term that is still sometimes used to mean pathogenic variant.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease.
Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Genes, like chromosomes, usually come in pairs. Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.Įach child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.
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