title: Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.
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 [straight theta] 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.
authors.affiliation: Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA.
authors.forename: H B
authors.initials: HB
authors.lastname: Yeon
authors.forename: N M
authors.initials: NM
authors.lastname: Lindor
authors.forename: J G
authors.initials: JG
authors.lastname: Seidman
authors.forename: C E
authors.initials: CE
authors.lastname: Seidman
mesh_terms: D000152:Acne Vulgaris / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D001168:Arthritis / Q000235:genetics*; D002648:Child; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D003434:Crossing Over, Genetic / Q000235:genetics; D005260:Female; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D019683:Penetrance; D011110:Polymorphism, Genetic / Q000235:genetics; D017511:Pyoderma Gangrenosum / Q000235:genetics*; D013577:Syndrome
chemical_list: D006680:HLA Antigens