Autosomal dominant inheritance

What does autosomal dominant inheritance mean?

Autosomal dominant inheritance means that a person only needs to inherit one copy of the altered allele to develop the disease, as it is dominant over the normal copy of the gene. Autosomal means that the altered gene is located on one of the 22 pairs of non-sex chromosomes (autosomes) and can be inherited from either the mother or the father. This type of inheritance is not limited to a specific gender and can affect both males and females.

It is usually seen in every generation of a family, with affected individuals typically having an affected parent. Each child of an affected parent has a 50% chance of inheriting the mutated gene and developing the autosomal dominant disease.

Autosomal dominant diseases:

•  Achondroplasia
•  Some types of Charcot-Marie-Tooth disease
•  Huntington’s disease
•  Some types of hemochromatosis
•  Neurofibromatosis
•  Some types of osteogenesis imperfecta
• Some types of retinitis pigmentosa
•  Marfan syndrome