Modes of transmission
It is a rare genetic disease (1 case for 1.000.000 births) with various modes of transmission:
- autosomal dominant (one of the parents is affected but sometimes in a much milder fashion)- MIM 127 550
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.
- hTERC and hTERT encode respectively the RNA and the reverse transcriptase components of the telomerase complex ; mutations in these genes have been reported in the autosomal dominant forms of the disease, for which genetic anticipation phenomena have been described.
- NOP10 encodes the Nop10 protein which also belongs to the telomerase complex ; a mutation in this gene has been found in one family displaying an autosomal recessive mode of inheritance.
- TINF2, codes for a protein (TIN2) belonging to the complex of shéltérine which is necessary for the training and protection of telomeres.
