Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

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 obliga...

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Bibliographic Details
Published in:American journal of human genetics 1997-03, Vol.60 (3), p.581-587
Main Authors: DEVRIENDT, K, MATTHIJS, G, LEGIUS, E, SCHOLLEN, E, BLOCKMANS, D, VAN GEET, C, DEGREEF, H, CASSIMAN, J.-J, FRYNS, J.-P
Format: Article
Language:English
Subjects:
Adult
Biological and medical sciences
Bone Marrow Diseases - genetics
Child, Preschool
Dermatology
Dosage Compensation, Genetic
Female
Heterozygote
Humans
Hyperpigmentation - genetics
Leukoplakia - genetics
Male
Medical sciences
Middle Aged
Nail Diseases - genetics
Pedigree
Pigmentary diseases of the skin
Polymorphism, Restriction Fragment Length
Skin Diseases - genetics
Syndrome
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Summary: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.
ISSN:0002-9297
1537-6605