The BCS1L gene can cause several different disorders including GRACILE syndrome, complex III deficiency, and Bjornstad syndrome.
BCS1L is important for the energy-generating structures (mitochondria) in our cells to work properly. Since many cells in different parts of the body need energy to work properly, individuals with BCS1L-related disorders may have problems in many different parts of the body including the brain, heart, ears, blood, and hair.
This group of conditions is caused by pathogenic (disease-causing) variants in the BCS1L gene and exhibits autosomal recessive inheritance. This means that both parents must be carriers to have a 25% chance to have a child with the condition. The risk of being a carrier is based on a person’s ancestry or ethnic background.
Resources:
National Organization for Rare Disorders
Revised August 2023
