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Dyskeratosis Congenita (DC) Registry: identification of new features of DC
Gespeichert in:
Personen und Körperschaften: | , , , , , |
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Titel: |
Dyskeratosis Congenita (DC) Registry: identification of new features of DC |
In: | British Journal of Haematology, 103, 1998, 4, S. 990-996 |
veröffentlicht: |
Wiley
|
Umfang: | 990-996 |
ISSN: |
1365-2141 0007-1048 |
DOI: | 10.1046/j.1365-2141.1998.01103.x |
Zusammenfassung: | <jats:p>Dyskeratosis congenita (DC) is an inherited disorder characterized by skin pigmentation, nail dystrophy and mucosal leucoplakia. In 1995 a Dyskeratosis Congenita Registry was established at the Hammersmith Hospital. In the 46 families recruited, 76/83 patients were male, suggesting that the major form of DC is X‐linked. As well as a variety of noncutaneous abnormalities, the majority (93%) of patients had bone marrow (BM) failure and this was the principal cause (71%) of early mortality. In addition to BM hypoplasia, some patients also developed myelodysplasia and acute myelod leukaemia. Pulmonary abnormalities were present in 19% of patients. In affected females the phenotype was less severe. Some female carriers of X‐linked DC had clinical features. Carriers of X‐linked DC showed skewed X‐chromosome inactivation patterns (XCIPs), suggesting that cells expressing the normal DC allele have a growth/survival advantage over cells that express the mutant allele. Linkage analysis in multiplex families confirmed that the <jats:italic>DKC1</jats:italic> gene, responsible for the X‐linked form of DC, is located within Xq28 and facilitated its positional cloning. The high incidence of BM failure in association with a wide range of somatic abnormalities together with the ubiquitous expression of <jats:italic>DKC1</jats:italic> suggest that, as well as having a critical role in normal haemopoiesis, this gene has a key role in normal cell biology.</jats:p> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |