Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

K Devriendt; G Matthijs; E Legius; E Schollen; D Blockmans; C van Geet; H Degreef; J J Cassiman; J P Fryns

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

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

Authors

K Devriendt¹, G Matthijs, E Legius, E Schollen, D Blockmans, C van Geet, H Degreef, J J Cassiman, J P Fryns

Affiliation

¹ Center for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium. koen.devriendt@med.kuleuven.ac.be

PMID: 9042917
PMCID: PMC1712491

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.

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