Two different modes of inheritance have been described for the MYH3 gene: autosomal dominant and autosomal recessive. It may be challenging to determine the mode of inheritance for some patients. For some patients, the mode of inheritance may be confirmed either by genetic testing, or may be interpreted from the family history.
Autosomal dominant mutations: Only one mutation is sufficient to cause the disease. The patient’s children have a 50% chance of inheriting the mutation and the disease.
Autosomal recessive mutations: Two mutations are required to cause the disease. If both parents are carriers of recessively inherited mutations, all of their children have a 25% chance of inheriting the disease. The patient’s children are not at any significant risk for the disease.
MYH3 autosomal recessive