Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
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ABSTRACT:
SUBMITTER: Devriendt K
PROVIDER: S-EPMC1712491 | biostudies-other | 1997 Mar
REPOSITORIES: biostudies-other
Publications
Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
Devriendt K K Matthijs G G Legius E E Schollen E E Blockmans D D van Geet C C Degreef H H Cassiman J J JJ Fryns J P JP
American journal of human genetics 19970301 3
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 rol ...[more]
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