Parents

What is DNM1L and why does it matter?
The DNM1L gene provides instructions for making a protein called DRP1, which is essential for splitting mitochondria — the energy-producing parts of our cells. When this gene has harmful changes (called pathogenic variants), the mitochondria can't divide properly. This leads to problems in cells that need a lot of energy, especially in the brain, heart, and muscles.

Who is affected?
97 unrelated individuals were found to have harmful DNM1L variants. 3 sibling pairs inherited the condition in a recessive way (both parents passed on a faulty gene). 1 pair of half-siblings had a dominant form (only one faulty gene needed). The average age when symptoms started or were first noticed was 2 years old, but it ranged from birth to 11 years.

How serious is it?
The condition can be life-threatening. About 28% of affected individuals died, with deaths occurring anytime between 8 days and 17 years of age.
It is extremely rare, affecting fewer than 1 in 1,000,000 people.