Gene responsible for severe facial defects identified

Goldenhar syndrome is a rare congenital disease, affecting early fetal development. This syndrome includes malformations of varying severity, affecting different parts of the face. Its causes and modes of transmission are still poorly understood. An international collaboration has discovered that pathogenic variants of the FOXI3 gene -- responsible for the development of the ear -- cause one form of this developmental disorder. The scientists were also able to identify the modes of transmission of the disease when this particular gene is involved.