TY - JOUR
T1 - Pyogenic arthritis pyoderma gangrenosum, and acne syndrome maps to chromosome 15q
AU - Yeon, Howard B.
AU - Lindor, Noralane M.
AU - Seidman, J. G.
AU - Seidman, Christine E.
N1 - Funding Information:
We appreciate the efforts of all the family members we studied, whose willing participation made these studies possible. We also thank the physicians who cared for the study subjects and Barbara McDonough, R.N., for clinical information. This work was supported by grants from the Howard Hughes Medical Institutes (J.G.S. and C.E.S.).
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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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U2 - 10.1086/302866
DO - 10.1086/302866
M3 - Article
C2 - 10729114
AN - SCOPUS:0033912687
SN - 0002-9297
VL - 66
SP - 1443
EP - 1448
JO - American journal of human genetics
JF - American journal of human genetics
IS - 4
ER -