The gene ATM (Ataxia Telangiectasia Mutated) was discovered in 1995 in Israel.

We, parents of children with ataxia telangiectasia, are heterozygous for a mutation in the ATM gene.

By its function, the ATM gene is ubiquitous in the body, so that the symptoms of ataxia telangiectasia are extremely varied.

Once again, the process of DNA repair in which the ATM gene is involved (see ATM: DNA controller")is at the heart of the problem.

Ataxia-telangiectasia (A-T) is caused by inactivating mutations of the ATM gene (11q22.3).

By its function, the ATM gene is ubiquitous in the body, so that the symptoms of ataxia telangiectasia are extremely varied.

Prenatal diagnosis is possible once at least one inactivating ATM gene mutation has been identified in the index case.

The ATM gene is present throughout the body and its absence impacts as many functions as corresponding medical specialties.

By its function, the ATM gene is ubiquitous in the body, so that the symptoms of ataxia telangiectasia are extremely varied.

In ataxia telangiectasia, the absence of the protein encoded by the ATM gene impacts, according to the procedure described in chapter "ATM: DNA controller", the regeneration of cells or their maintenance in good working condition.

When the mutated A-T gene (ATM) has been identified by researchers, it is possible to confirm a diagnosis by screening the patient's DNA for mutations.

She could demonstrate that in neuroblastoma, ATM loss occurs frequently and, in addition, is a likely marker of bad prognosis.

Now that the ATM gene has been identified, it is possible to confirm the diagnosis by trying to detect mutations in the patient's DNA.

By its function, the ATM gene is ubiquitous in the body, so that the symptoms of ataxia telangiectasia are extremely varied.

So even if Ataxia Telangiectasia remains an orphan disease, understanding the role of the ATM gene is essential in the fight against many other diseases much more extensive.