Other Medical Concerns for People with Inherited Mutations
A rare and serious childhood disease called Ataxia-Telangiesctasia (AT) can occur in children who inherit an mutation from both their mother and their father. Children who have AT have neurological problems, immunodeficiency and cancers such as leukemia and .
Both parents must have an mutation for a child to have AT. Couples where one partner has a known mutation may wish to speak with a genetic counselor about testing the other partner prior to having children. There are options using assisted reproduction technology and preimplantation genetic diagnosis for parents to select embryos that are free of inherited mutations.
Research shows that people with AT are sensitive to the effects of radiation. This has led to questions about whether x-ray exposure is a risk for people with a single mutation. At this time experts feel that there is not enough evidence to suggest that people with an mutation need to avoid mammograms, other screening x-rays, or radiation treatment for cancer as recommended by their doctors.