Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q.
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.
Yeon
H B
HB
Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Boston, MA, USA.
Lindor
N M
NM
Seidman
J G
JG
Seidman
C E
CE
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
D006680:HLA Antigens