Human Molecular Genetics, Vol 6, 1823-1828, Copyright © 1997 by Oxford University Press
B Struk, KH Neldner, VS Rao, P St Jean and K Lindpaintner
Pseudoxanthoma elasticum (PXE) is a classic inherited disorder of the
elastic tissue characterized by progressive calcification of elastic fibers
with a pathognomonic histological appearance. The clinical manifestations
of PXE typically involve the skin, the eye and the cardiovascular system,
resulting in skin lesions, decreased vision and vascular disease.
Clinically, a more common autosomal recessive and a less common autosomal
dominant pattern of inheritance, with high penetrance, have been described;
the estimated prevalence of the disease is 1 in 70,000-100,000. Previous
failure to link the disease to any of several candidate genes prompted us
to conduct a genome-wide screen on a collection of 38 families with two or
more affected siblings, using allele sharing algorithms. Excess allele
sharing was found on the short arm of chromosome 16 and confirmed by
conventional linkage analysis, localizing the disease gene under a
recessive model with a maximum two point lod score of 21.27 on chromosome
16p13.1, an area so far devoid of any obvious candidate genes. Under a
dominant transmission pattern linkage with a maximum two point lod score of
14.53 was observed to the same region. Linkage heterogeneity analysis
predicted the presence of allelic heterogeneity with different variants of
a single gene that resides in this chromosomal region accounting for
recessive and dominant forms of PXE.
ARTICLES
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1
Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
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