Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome associated with
characteristic mucocutaneous features and a variable series of other somatic abnormalities.
The disease is heterogeneous at the genetic and clinical levels. Determination of the genetic
basis of DC has established that the disease is caused by a number of genes, all of which
encode products involved in telomere maintenance, either as part of telomerase or as part of
the shelterin complex that caps and protects telomeres. There is overlap at the genetic and …