STN1: New dyskeratosis congenita gene identified

Another DC gene has been identified. STN1 has been shown to cause Coats plus syndrome, a severe form of DC where patients have eye and brain abnormalities in addition to bone marrow and other DC problems.

There are now two genes known to cause the Coats plus form of DC: CTC1 and STN1. Identifying the gene abnormality means that the diagnosis can be confirmed early and helps doctors and patients find the best treatment.