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| Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita |
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| Author(s): Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, vanGeet C, Degreef H, Cassiman JJ, Fryns JP |
| Source: AMERICAN JOURNAL OF HUMAN GENETICS Volume: 60 Issue: 3 Pages: 581-587 Published: MAR 1997 |
| Times Cited: 55 References: 23 |
| Abstract: In this study, we report on a family with X-linked dyskeratosis congenita (DC). Linkage analysis with markers in the factor Vm gene at Xq28 yielded a LOD score of 2 at a recombination of O. 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Devriendt, K (reprint author), UNIV HOSP GASTHUISBERG, CTR HUMAN GENET, HERESTR 49, B-3000 LOUVAIN, BELGIUM |
Addresses:
1. UNIV HOSP GASTHUISBERG, DEPT INTERNAL MED, B-3000 LOUVAIN, BELGIUM
2. UNIV HOSP GASTHUISBERG, DEPT PEDIAT, B-3000 LOUVAIN, BELGIUM
3. UNIV HOSP GASTHUISBERG, DEPT DERMATOL, B-3000 LOUVAIN, BELGIUM |
| Publisher: UNIV CHICAGO PRESS, 5720 S WOODLAWN AVE, CHICAGO, IL 60637 |
| Subject Category: Genetics & Heredity |
| IDS Number: WK403 |
| ISSN: 0002-9297 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |