Mutations in COX7B are responsible for a disease called Linear skin defects with multiple congenital anomalies 2 syndrome (LSDMCA2; MIM#300887) previously known as microphthalmia with linear skin defects (MLS). The main clinical features affect the skin and may involve other organs such as the central nervous system and the heart presenting with various congenital anomalies.
The disease is transmitted as a X-linked dominant male lethal disorder and is extremely rare as to date only four female patients have been described with mutations in this transcript.
COX7B