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

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.

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  • 1Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.


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.

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