Most common mode of Mendelian inheritance. Affected individual carries the abnormal gene on one of a pair of autosomes.
In AD disorders, each child of an affected parent has a 50% chance of inheriting the mutated gene, but there may be variation in expression, non-penetrance, no family history (new mutation, parental mosaicism, non-paternity), or homozygosity (rare).
Examples of autosomal dominant disorders:
- Achondroplasia
- Ehlers–Danlos syndrome
- Familial hypercholesterolaemia
- Marfan syndrome
- Neurofibromatosis
- Noonan syndrome
- Osteogenesis imperfecta
Rules of Autosomal Dominant Inheritance Trait appears in every generation. Each child of an affected parent has a 1-in-2 chance of being affected. Males and females are equally affected. Male-to-male transmission occurs. Traits generally involve mutations in genes that code for regulatory or structural proteins (collagen).