Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

Am J Hum Genet. 1997 Mar;60(3):581-7.


In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor VIII gene at Xq28 yielded a LOD score of 2 at a recombination of 0. Clinical manifestations of DC, such as skin lesions following the Blaschko lines, were present in two obligate carrier females. Highly skewed X inactivation was observed in white blood cells, cultured skin fibroblasts, and buccal mucosa from female carriers of DC in this family. This suggests a critical role for the DC gene in bone marrow-cell and fibroblast-cell proliferation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone Marrow Diseases / genetics*
  • Child, Preschool
  • Dosage Compensation, Genetic*
  • Female
  • Heterozygote
  • Humans
  • Hyperpigmentation / genetics
  • Leukoplakia / genetics
  • Male
  • Middle Aged
  • Nail Diseases / genetics
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Skin Diseases / genetics*
  • Syndrome