Letters to the editor
Mutation analysis of the DKC1 gene in incontinentia pigmenti
| The first 150 words of the full text of this article appear below. |
EDITOR
There are a number of monogenic diseases
with complex phenotypes which are clinically distinct but also overlap
in phenotype with one or more other syndromes. If mutations in the same
gene are responsible for causing the related syndromes, the diseases
are allelic. Two diseases linked to Xq28, incontinentia pigmenti (IP,
MIM 308310, Bloch-Sulzberger syndrome) and dyskeratosis congenita (DKC,
MIM 305000, Zinsser-Cole-Engmann syndrome) show similarities in
phenotype, although the modes of expression differ. Whereas IP is X
linked dominant with embryonic lethality in males, the major form of
DKC is X linked recessive. The gene responsible for causing DKC,
DKC1, was recently identified1
and maps about 20 kb proximal to the factor VIII gene,
F8C.2 Linkage analyses have
provided evidence that the IP gene is located in the telomeric 2 Mb
region of Xq28 distal to DXS523 and lod scores of highest significance were found around
F8C.4 5 The physical map
position of
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