title: Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita.
abstract: 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.
authors.affiliation: Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be
authors.forename: K
authors.initials: K
authors.lastname: Devriendt
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: D
authors.initials: D
authors.lastname: Blockmans
authors.forename: C
authors.initials: C
authors.lastname: van Geet
authors.forename: H
authors.initials: H
authors.lastname: Degreef
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D000328:Adult; D001855:Bone Marrow Diseases / Q000235:genetics*; D002675:Child, Preschool; D004303:Dosage Compensation, Genetic; D005260:Female; D006579:Heterozygote; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics; D007971:Leukoplakia / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009260:Nail Diseases / Q000235:genetics; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012871:Skin Diseases / Q000235:genetics*; D013577:Syndrome