Families

POLD3 deficiency is a rare disease that results from alterations in a gene called POLD3. The latter is important to produce a protein that helps our body copy and repair DNA, which is very important for the replication of our cells and for fulfilling normal functions in our body.
Each of us has two copies of this gene, one inherited from his father and the second from his mother.

When there is an alteration that occurs at the level of both copies (scientists call this biallelic mutations), this causes a very serious condition that is characterized by an inability of our body to fight infections (severe immune deficiency), hearing loss (inability to hear) and delays in the normal development of a baby (neurodevelopmental delay).
On the other hand, when only one copy of the gene is altered (scientists call this haploinsufficiency), the patient has troubles in his hearing abilities that will start to show after he reached around 40 years of age. This can also be accompanied by troubles in the balance.

To confirm this disease, doctors will request genetic testing which are blood tests that will check if the POLD3 gene has any aberration. Additional blood tests or hearing assessments may be needed to confirm this condition.