Modes of transmission
It is a rare genetic disease (1 case for 1.000.000 births) with various modes of transmission:
it can either be X-linked (only boys are affected) - MIM 305 000
autosomal dominant (one of the parents is affected but sometimes in a much milder fashion)- MIM 127 550
or autosomal recessive (both parents are healthy).- MIM 224 230
To date, 5 genes have been identified :
DKC1 encodes the dyskerin protein ; it is located on the X chromosome and mutated in the sex-linked form of the disease.