A Novel TNFRSF1A Gene Mutation in a Patient with Tumor Necrosis Factor Receptor-associated Periodic Syndrome

Publication date: Available online 19 October 2016 Source:Hematology/Oncology and Stem Cell Therapy Author(s): Alireza Khabazi, Mahafarin Maralani, Sasan Andalib, Ebrahim Sakhinia 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 gene that expresses 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 the case of an 8-year-old boy with febrile attacks occurring every 1–2 months and continuing for 3–4 days. 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 using an autosomal dominant inheritance pattern 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 is likely that R426L is a de novo and novel mutation in the TNFRSF1A gene, which can trigger TRAPS or TRAPS-like symptoms.

Source: Hematology Oncology and Stem Cell Therapy - October 24, 2016 Category: Cancer & Oncology Source Type: research