title: A novel TNFRSF1A gene mutation in a patient with tumor necrosis factor receptor-associated periodic syndrome.
abstract: Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a periodic fever syndrome inherited in an autosomal dominant fashion. It stems from mutations in the TNFRSF1A (accession number: NM_001065) gene expressing the receptor for tumor necrosis factor α. A patient with TRAPS may present with prolonged episodes of fever attacks, abdominal pain, severe myalgia, and painful erythema on the trunk or extremities. Here, we report an 8-year-old boy with febrile attacks occurring every 1-2months and continuing for 3-4days. The patient experienced 40°C-fever attacks without chills. Approximately 80% of fever attacks were accompanied by abdominal manifestations. Direct sequencing analysis was used to assess the genomic DNA of the patient, and a heterozygous R426L mutation in exon 10 of the TNFRSF1A gene in an autosomal dominant inheritance fashion was identified. Further genetic analyses were also carried out on his parents. Due to the fact that the mutation was not inherited from the parents, it was likely that R426L was a de novo and novel mutation in the TNFRSF1A gene, which can trigger TRAPS or TRAPS-like symptoms.
authors: Connective Tissue Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
authors: Alireza
authors: A
authors: Khabazi
authors: Department of Molecular Medicine, Health Science Institute, Dokuz Eylul University, Izmir, Turkey.
authors: Mahafarin
authors: M
authors: Maralani
authors: Neuroscience Research Center, Guilan University of Medical Sciences, Rasht, Iran; Department of Neurosurgery, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran.
authors: Sasan
authors: S
authors: Andalib
authors: Connective Tissue Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Molecular Medicine, Health Science Institute, Dokuz Eylul University, Izmir, Turkey; Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address: esakhinia@yahoo.co.uk.
authors: Ebrahim
authors: E
authors: Sakhinia
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D005334:Fever / Q000235:genetics*; D056660:Hereditary Autoinflammatory Diseases / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D047888:Receptors, Tumor Necrosis Factor, Type I / Q000235:genetics*; D013577:Syndrome
chemical_list: D047888:Receptors, Tumor Necrosis Factor, Type I; C506235:TNFRSF1A protein, human
keywords: Periodic fever; TNFRS1A gene; TRAPS; Tumor necrosis factor receptor 1; Tumor necrosis factor receptor-associated periodic syndrome; Tumor necrosis factor α