Single-gene mutations are defects or changes in genes that may be passed on from generation to generation. The most common forms of inheritance include autosomal dominant, autosomal recessive, X-linked recessive, and new dominant mutations. Single-gene mutations may result in both structural and functional birth defects. These defects may be found in isolation or as part of a known syndrome and may display phenotypic variation, in which the same mutant gene leads to variable clinical problems. This often occurs with dominant mutations such as Marfan syndrome. A genetic disorder may also display reduced penetrance, wherein not everyone with the genetic mutation will have the disorder or trait. These are also known as "silent" disorders.
- Birth Defects - Autosomal Dominant Disorders
- Birth Defects - Various Causes, Various Treatments
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Medicine EncyclopediaGenetics in Medicine - Part 1Birth Defects - Various Causes, Various Treatments, Single-gene Mutations, Autosomal Dominant Disorders, Functional Birth Defects