title: A new mutation causing autosomal dominant periodic fever syndrome in a Danish family.
abstract: 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.
authors.affiliation: Department of Paediatrics 531, H:S Hvidovre Hospital, Copenhagen, Denmark.
authors.forename: Heike
authors.initials: H
authors.lastname: Weyhreter
authors.forename: Marianne
authors.initials: M
authors.lastname: Schwartz
authors.forename: Tim D
authors.initials: TD
authors.lastname: Kristensen
authors.forename: Niels H
authors.initials: NH
authors.lastname: Valerius
authors.forename: Anders
authors.initials: A
authors.lastname: Paerregaard
mesh_terms: 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
chemical_list: 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