Progressive Osseous Heteroplasia (POH) is a rare genetic disorder characterized by the formation of bone in soft tissues such as muscles and skin. It is caused by mutations in the GNAS gene. POH follows an autosomal dominant pattern of inheritance, meaning it can be passed down from an affected parent to their child. Genetic testing and counseling are recommended for individuals with a family history of POH to assess the risk of inheriting the condition.
Progressive Osseous Heteroplasia (POH) is a rare genetic disorder characterized by the abnormal formation of bone in the skin, muscles, and connective tissues. It is caused by mutations in the GNAS gene, which is responsible for producing a protein called Gs alpha. This protein plays a crucial role in regulating the activity of certain enzymes and signaling pathways involved in bone and tissue development.
POH is inherited in an autosomal dominant manner, which means that a person with a mutation in one copy of the GNAS gene will develop the disorder. In most cases, individuals with POH have an affected parent who also carries the mutation. However, there have been rare instances where the mutation occurs spontaneously in an individual with no family history of the disorder.
Due to the autosomal dominant inheritance pattern, there is a 50% chance that a child of an affected individual will inherit the mutation and develop POH. It is important to note that even if a person inherits the mutation, the severity and progression of the disorder can vary widely. Some individuals may have mild symptoms, while others may experience more extensive bone and tissue abnormalities.
Genetic counseling and testing are recommended for individuals with a family history of POH or those who are concerned about their risk of passing on the mutation. These services can provide valuable information about the likelihood of inheriting the disorder and help individuals make informed decisions about family planning and medical management.