A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.
We describe four members in a family of 8 individuals over 3 generations with the autosomal dominant inherited periodic fever syndrome tumor necrosis factor receptor-associated periodic syndrome (TRAPS). The patients had recurrent episodes of fever, abdominal pain, arthritis, and rash. We examined the gene coding for the tumor necrosis factor receptor TNFRSF1A in all first-degree family members. In all 4 symptomatic members of the family, a hitherto undescribed mutation C98Y (380G-->A) in the TNFRSF1A gene was identified. In contrast, this mutation was not found in the 4 family members reported to be healthy nor in 50 normal control patients. The youngest member of the family, a 2-year-old boy, was treated successfully with etanercept.
Weyhreter
Heike
H
Department of Paediatrics 531, H:S Hvidovre Hospital, Copenhagen, Denmark.
Schwartz
Marianne
M
Kristensen
Tim D
TD
Valerius
Niels H
NH
Paerregaard
Anders
A
D000328:Adult; D000894:Anti-Inflammatory Agents, Non-Steroidal / Q000627:therapeutic use; D015703:Antigens, CD / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D003718:Denmark / Q000453:epidemiology; D000068800:Etanercept; D010505:Familial Mediterranean Fever / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D007074:Immunoglobulin G / Q000627:therapeutic use; D007155:Immunologic Factors / Q000627:therapeutic use; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018124:Receptors, Tumor Necrosis Factor / Q000235:genetics* / Q000627:therapeutic use; D047888:Receptors, Tumor Necrosis Factor, Type I; D015183:Restriction Mapping
D000894:Anti-Inflammatory Agents, Non-Steroidal; D015703:Antigens, CD; D007074:Immunoglobulin G; D007155:Immunologic Factors; D018124:Receptors, Tumor Necrosis Factor; D047888:Receptors, Tumor Necrosis Factor, Type I; D000068800:Etanercept