Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.

@article{Du2007ComplexIP,
  title={Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.},
  author={Hong-Yan Du and Elena Pumbo and Peter Manley and Joshua J Field and Susan J. Bayliss and David B Wilson and Philip J. Mason and Monica Bessler},
  journal={Blood},
  year={2007},
  volume={111 3},
  pages={
          1128-30
        }
}
Heterozygous mutations in the telomerase components TERT, the reverse transcriptase, and TERC, the RNA template, cause autosomal dominant dyskeratosis congenita due to telomere shortening. Anticipation, whereby the disease severity increases in succeeding generations due to inheritance of shorter telomeres, is a feature of this condition. Here we describe 2 families in which 2 TERT mutations are segregating. Both families contain compound heterozygotes. In one case the proband is homozygous for… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 12 REFERENCES

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2005
VIEW 2 EXCERPTS

The effect of TERC haploinsufficiency on the inheritance of telomere length.

  • Proceedings of the National Academy of Sciences of the United States of America
  • 2005
VIEW 2 EXCERPTS