What genetic conditions are caused by an autosomal dominant gene mutation?

It is important to point out that a characteristic of some dominant genes is that they can have different or variable expressions. This means that some people have milder or more influenced characteristics than orders. Another important characteristic of dominant genes is that in some cases they have reduced penetrance – it is important this term in genetics. This means that sometimes a person can have a dominant gene copy but not show any signs of the gene, the concept of reduced penetrance is very important in the case of autosomal dominant cancer, for example. In this case we have susceptibility genes. If a person has…I think that cancer is the most easy way to explain to you if a person has inherited cancer susceptibility, it does not mean they will automatically develop cancer – it simply means that the person has increased a mutation in a gene that gives them a higher chance to develop cancer than someone without a mutation. For example, we have some conditions that involves autosomal dominant inheritance like the Angelman Syndrome (AS), Ehlers-Danlos syndrome (EDS), the word of fibromatosis or achondroplasty that is very common and is the inheritance is dominant 50% could be carried out in our children and the expression is very variable remember and the penetrance or the concept of prenetrans is particularly important in the case of this type of mutation the dominant gene mutation.

Achondroplasia or dwarfism are classical and very common dominant mutations. In fertility, there’s an inversion of chromosome one, which causes spermatic genic failure in males. So you only need one bad chromosome and you will get spermatic genic failure in males. There’s also the FIGLA mutation, and they cause primary ovarian failure in females. Fortunately, these are rare; otherwise, we’d be extinct.