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Information and medical research site about Dyskeratosis Congenita

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.
  • 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.

Medical informations
Last modified: novembre 26,  2007