Pulmonary Surfactant Dysfunction (ABCA3)

Pulmonary surfactant dysfunction is an autosomal recessive disorder caused by pathogenic variants in several genes, including ABCA3. This gene encodes a protein involved in the production of surfactant, a substance that lines lungs to make breathing easier. Pathogenic variants in ABCA3 result in reduced or abnormal protein production and decreased surfactant. Without normal surfactant, the surface tension in the air sacs of the lungs (alveoli) increases, causing difficulty breathing and collapse of the airways. The onset and severity of this condition varies. The most severe form of this condition presents in infancy and can cause neonatal death due to respiratory distress. Others begin to experience breathing difficulties in childhood or adulthood. Symptoms include rapid breathing (tachypnea), low concentrations of oxygen in the blood (hypoxemia), and failure to thrive. Variants that eliminate protein function lead to a more severe phenotype than variants that result in some residual function. The prevalence of surfactant dysfunction due to ABCA3 variants is unknown.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):