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Recent advances in gene mapping of skin diseases. Pseudoxanthoma elasticum: A satisfying sibling study

¹Studies Section, LSB, National Institute of Arthritis & Musculoskeletal & Skin Disease, National Institutes of Health, Bethesda, Maryland 20892-2757, USA.

Journal of Cutaneous Medicine and Surgery

|March 19, 1999

Abstract

Background:

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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