Nov 15, 2011

Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita

The Journal of Allergy and Clinical Immunology
Fabien TouzotP Revy


Telomeres represent the tips of linear chromosomes. In human subjects telomere maintenance deficiency leads to dyskeratosis congenita (DC), a rare genetic disorder characterized by progressive bone marrow failure, accelerated aging, and cancer predisposition. Hoyeraal-Hreidarsson syndrome (HH) is a severe variant of DC in which an early onset of bone marrow failure leading to combined immunodeficiency is associated with microcephaly, cerebellar hypoplasia, and growth retardation. Limited information is available on the cellular and molecular phenotypes of cells from patients with HH. We analyzed fibroblasts and whole blood cells from 5 patients with HH, 3 of them of unknown molecular origin. Telomere length, cellular senescence rate, telomerase activity, telomeric aberration, and DNA repair pathways were investigated. Although patients' cells exhibit dysfunctional telomeres, sharp differences in the telomeric aberrations and telomere lengths were noted among these patients. In some patients the dysfunctional telomere phenotype was unprecedented and associated with either normal telomere length or with telomeric aberrations akin to fragile telomeres. This result is of particular importance because the molecular diagnosis of thes...Continue Reading

  • References40
  • Citations16


  • References40
  • Citations16


Mentioned in this Paper

Excessive Attrition of Teeth
Bone Marrow Failure Syndromes
Fanconi Anemia
Biochemical Pathway
Cell Aging
USB1 gene
NOP10 gene
Specimen Type - Fibroblasts
Telomere Repeat Binding Proteins
DNA Repair

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