POLR1C related leukodystrophy

Description of the condition

POLR1C-related leukodystrophy is a rare genetic disorder caused by mutations in the POLR1C gene. This leads to disrupted cellular processes responsible for myelin production in the brain’s white matter. The condition results in progressive neurological symptoms, including developmental delay, movement difficulties, and intellectual disability. Treatment primarily focuses on managing symptoms and providing supportive care to enhance the individual’s quality of life.

Cause

Although this condition is caused by mutations in the POLR1C gene, there are clinical and molecular similarities between POLR1C related leukodystrophy and 4H Syndrome.

Inheritance

Autosomal recessive: In autosomal recessive conditions, two copies of the genetic mutation are needed to cause the condition. We all have two copies of every gene, one from our mother and one from our father. The parents of someone with an autosomal recessive condition both carry one copy of the gene with a genetic mutation. Therefore, someone with an autosomal recessive condition has two copies of the genetic mutation, one copy from each parent. Each child of parents that both carry the genetic mutation will have a 25% chance of having the condition, a 50% chance of carrying the genetic mutation (like the parent), and a 25% chance of not having the condition.

Symptoms

Symptoms of this condition are delayed development of mental and motor skills, tremor, ataxia, spasticity and walking difficulties. Near-sightedness is common, and becomes increasingly severe over time. Those affected may have hypodontia or teeth in abnormal positions and of abnormal shape. In some cases, affected individuals are short in stature and experience delayed or absent puberty.