What is the cause of ataxia-telangiectasia? 2023 ATM gene located on chromosome
What is the cause of ataxia-telangiectasia? The cause of ataxia-telangiectasia can be caused by a mutation in the ATM gene located on chromosome 11. Everyone inherits two copies of the gene, one from each parent.
An individual with ataxia-telangiectasia has two mutant copies of the ATM gene. As a result, the individual cannot repair damaged DNA correctly. People with this condition develop progressive cerebellar degeneration and telangiectasias. Some people with this condition have Ataxia-telangiectasia fewer symptoms than others.
It appears that the severity of symptoms is related to the age at which the individual is born. Those born later have symptoms that tend to be milder than those born earlier.