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Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC

Nature Genetics volume 36, pages 447–449 (2004)Cite this article

Abstract

Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.

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Figure 1: Families with AD-DC, mutations in TERC and their impact on telomere length.

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Acknowledgements

We thank the clinicians and families for providing samples, N. Killeen for technical assistance and the Wellcome Trust for financial support.

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Author notes

  1. Philip J Mason

    Present address: Division of Hematology, Department of Internal Medicine, Washington University School of Medicine, Campus Box 8125, 660 South Euclid Avenue, St. Louis, Missouri, 63110, USA

Authors and Affiliations

  1. Department of Haematology, Division of Investigative Science, Imperial College London, Hammersmith Hospital, DuCane Rd, London, W12 ONN, UK

    Tom Vulliamy, Anna Marrone, Richard Szydlo, Amanda Walne, Philip J Mason & Inderjeet Dokal

Authors
  1. Tom Vulliamy
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  2. Anna Marrone
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  3. Richard Szydlo
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  6. Inderjeet Dokal
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Correspondence to Philip J Mason.

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The authors declare no competing financial interests.

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Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346

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