Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q

Howard B. Yeon, Noralane Morey Lindor, J. G. Seidman, Christine E. Seidman

Research output: Contribution to journalArticle

104 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)1443-1448
Number of pages6
JournalAmerican Journal of Human Genetics
Volume66
Issue number4
DOIs
StatePublished - 2000

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Chromosomes
Pyoderma Gangrenosum
Acne Vulgaris
Genetic Recombination
Arthritis
Chromosomes, Human, Pair 15
Histocompatibility
Penetrance
Haplotypes
Pyogenic arthritis, pyoderma gangrenosum, and acne
Genes

ASJC Scopus subject areas

  • Genetics

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Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. / Yeon, Howard B.; Lindor, Noralane Morey; Seidman, J. G.; Seidman, Christine E.

In: American Journal of Human Genetics, Vol. 66, No. 4, 2000, p. 1443-1448.

Research output: Contribution to journalArticle

Yeon, Howard B. ; Lindor, Noralane Morey ; Seidman, J. G. ; Seidman, Christine E. / Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. In: American Journal of Human Genetics. 2000 ; Vol. 66, No. 4. pp. 1443-1448.
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