A review of the recent progress made in mapping of the hereditary skin disease pseudoxanthoma elasticum is presented.
Methods:
Affected sib pair methods, parametric linkage analysis, and linkage heterogeneity tests are reviewed as applied to the effort to identify the location of the pseudoxanthoma elasticum gene.
Results:
Families segregating either autosomal dominant or autosomal recessive pseudoxanthoma elasticum mapped to chromosome 16p13.1.
Conclusion:
There is a gene for pseudoxanthoma elasticum on chromosome 16p. The underlying molecular defect remains to be elucidated.
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References
1.
BonifasJMRothmanALEpsteinEH. Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities. Science1991; 254:1202–1205.
2.
ComptonJGDiGiovannaJJSantucciSK. Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genetics1992; 1:301–305.
3.
RussellLJDiGiovannaJJHashemN. Linkage of autosomal recessive lamellar ichthyosis to chromosome 14q. Am J Hum Genet1994; 55:1146–1152.
4.
HahnHWickingCZaphiropoulosPG. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell1996; 85:841–851.
5.
JohnsonRLRothmanALXieJ. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science1996; 272:1668–1671.
PopeFM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol1975; 92:493–509.
9.
ChristianoAMLebwohlMDBoydCDUittoJ. Workshop on pseudoxanthoma elasticum: Molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, PA, June 10, 1992. J Invest Dermatol1992; 99:660–663.
10.
StrukBNeldnerKHRaoVS. Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1. Hum Molec Genet1997; 6:1823–1828.
11.
OttJ. Methods of linkage analysis. In: OrtJ, ed. Analysis of human genetic linkage. Baltimore, MD: Johns Hopkins University Press, 1992:78–79.
12.
BaleSJ. When genetics gets under your skin. J Cutan Med Surg1996; 1:97–100.
13.
van SoestSSwartJTijmesN. A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1. Genome Res1997; 7:830–834.
