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Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne Syndrome Maps to Chromosome 15q

Authors
  • Yeon, Howard B.
  • Lindor, Noralane M.
  • Seidman, J.G.
  • Seidman, Christine E.
Type
Published Article
Journal
The American Journal of Human Genetics
Publisher
Elsevier BV
Publication Date
Jan 01, 2000
Accepted Date
Jan 13, 2000
Volume
66
Issue
4
Pages
1443–1448
Identifiers
DOI: 10.1086/302866
Source
Elsevier
Keywords
License
Unknown

Abstract

Pyoderma gangrenosum, cystic acne, and aseptic arthritis are clinically distinct disorders within the broad class of inflammatory diseases. Although this triad of symptoms is rarely observed in a single patient, a three-generation kindred with autosomal-dominant transmission of these three disorders has been reported as “PAPA syndrome” (MIM 604416). We report mapping of a disease locus for familial pyoderma gangrenosum–acne–arthritis to the long arm of chromosome 15 (maximum two-point LOD score, 5.83; recombination fraction [θ] 0 at locus D15S206). Under the assumption of complete penetrance, haplotype analysis of recombination events defined a disease interval of 10 cM, between D15S1023 and D15S979. Successful identification of a single disease locus for this syndrome suggests that these clinically distinct disorders may share a genetic etiology. These data further indicate the role of genes outside the major histocompatibility locus in inflammatory disease.

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