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A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus.
Rheumatology (Oxford) 2004; 43(10):1292-9R

Abstract

OBJECTIVE

To identify potential mutations in the tumour necrosis factor receptor superfamily 1A gene (TNFRSF1A) in a Japanese female patient with recurrent fever complicated by systemic lupus erythematosus (SLE), and in her family members.

METHODS

DNA sequencing of exons 1-10 of the TNFRSF1A gene was performed to determine mutations that might be associated with the tumour necrosis factor receptor-associated periodic syndrome (TRAPS). Moreover, the TNFRSF1A gene was examined in Japanese patients with autoimmune diseases, including SLE, rheumatoid arthritis (RA), mixed connective tissue disease (MCTD) and Behçet's disease, and in healthy Japanese controls. Enzyme-amplified sensitivity immunoassay (EASIA) analysis was used to assess serum levels of TNF, the 55-kDa TNF receptor (TNFRSF1A) and the 75-kDa TNF receptor (TNFRSF1B). Membrane TNFRSF1A expression was analysed on the surface of peripheral blood mononuclear cells by flow cytometry.

RESULTS

A novel mutation, a heterozygous C to T transition in exon 3 which substitutes an isoleucine for a threonine at position 61 (T61I) was detected in the TNFRSF1A gene derived from the genomic DNA of a Japanese female TRAPS patient. Two nieces and one nephew, all with a similar clinical phenotype, also possessed the same TNFRSF1A mutation. We further demonstrated the same mutation in five of 60 SLE patients (8.3%) and in five of 120 healthy individuals (4.2%), with no significant differences. Although high titres of serum TNF and soluble TNFRSF1B protein were observed in this patient, low titres of soluble TNFRSF1A protein were detected. However, a defect in TNFRSF1A shedding in vitro was not observed in monocytes derived from this patient.

CONCLUSION

This is the first report of a TRAPS patient associated with SLE with a novel TNFRSF1A mutation (T61I).

Authors+Show Affiliations

First Department of Internal Medicine, Nagasaki University Hospital of Medicine and Dentistry, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan. idah@net.nagasaki-u.ac.jpNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15280569

Citation

Ida, H, et al. "A Novel Mutation (T61I) in the Gene Encoding Tumour Necrosis Factor Receptor Superfamily 1A (TNFRSF1A) in a Japanese Patient With Tumour Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) Associated With Systemic Lupus Erythematosus." Rheumatology (Oxford, England), vol. 43, no. 10, 2004, pp. 1292-9.
Ida H, Kawasaki E, Miyashita T, et al. A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Rheumatology (Oxford). 2004;43(10):1292-9.
Ida, H., Kawasaki, E., Miyashita, T., Tanaka, F., Kamachi, M., Izumi, Y., ... Eguchi, K. (2004). A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. Rheumatology (Oxford, England), 43(10), pp. 1292-9.
Ida H, et al. A Novel Mutation (T61I) in the Gene Encoding Tumour Necrosis Factor Receptor Superfamily 1A (TNFRSF1A) in a Japanese Patient With Tumour Necrosis Factor Receptor-associated Periodic Syndrome (TRAPS) Associated With Systemic Lupus Erythematosus. Rheumatology (Oxford). 2004;43(10):1292-9. PubMed PMID: 15280569.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel mutation (T61I) in the gene encoding tumour necrosis factor receptor superfamily 1A (TNFRSF1A) in a Japanese patient with tumour necrosis factor receptor-associated periodic syndrome (TRAPS) associated with systemic lupus erythematosus. AU - Ida,H, AU - Kawasaki,E, AU - Miyashita,T, AU - Tanaka,F, AU - Kamachi,M, AU - Izumi,Y, AU - Huang,M, AU - Tamai,M, AU - Origuchi,T, AU - Kawakami,A, AU - Migita,K, AU - Motomura,M, AU - Yoshimura,T, AU - Eguchi,K, Y1 - 2004/07/27/ PY - 2004/7/29/pubmed PY - 2004/11/2/medline PY - 2004/7/29/entrez SP - 1292 EP - 9 JF - Rheumatology (Oxford, England) JO - Rheumatology (Oxford) VL - 43 IS - 10 N2 - OBJECTIVE: To identify potential mutations in the tumour necrosis factor receptor superfamily 1A gene (TNFRSF1A) in a Japanese female patient with recurrent fever complicated by systemic lupus erythematosus (SLE), and in her family members. METHODS: DNA sequencing of exons 1-10 of the TNFRSF1A gene was performed to determine mutations that might be associated with the tumour necrosis factor receptor-associated periodic syndrome (TRAPS). Moreover, the TNFRSF1A gene was examined in Japanese patients with autoimmune diseases, including SLE, rheumatoid arthritis (RA), mixed connective tissue disease (MCTD) and Behçet's disease, and in healthy Japanese controls. Enzyme-amplified sensitivity immunoassay (EASIA) analysis was used to assess serum levels of TNF, the 55-kDa TNF receptor (TNFRSF1A) and the 75-kDa TNF receptor (TNFRSF1B). Membrane TNFRSF1A expression was analysed on the surface of peripheral blood mononuclear cells by flow cytometry. RESULTS: A novel mutation, a heterozygous C to T transition in exon 3 which substitutes an isoleucine for a threonine at position 61 (T61I) was detected in the TNFRSF1A gene derived from the genomic DNA of a Japanese female TRAPS patient. Two nieces and one nephew, all with a similar clinical phenotype, also possessed the same TNFRSF1A mutation. We further demonstrated the same mutation in five of 60 SLE patients (8.3%) and in five of 120 healthy individuals (4.2%), with no significant differences. Although high titres of serum TNF and soluble TNFRSF1B protein were observed in this patient, low titres of soluble TNFRSF1A protein were detected. However, a defect in TNFRSF1A shedding in vitro was not observed in monocytes derived from this patient. CONCLUSION: This is the first report of a TRAPS patient associated with SLE with a novel TNFRSF1A mutation (T61I). SN - 1462-0324 UR - https://www.unboundmedicine.com/medline/citation/15280569/A_novel_mutation__T61I__in_the_gene_encoding_tumour_necrosis_factor_receptor_superfamily_1A__TNFRSF1A__in_a_Japanese_patient_with_tumour_necrosis_factor_receptor_associated_periodic_syndrome__TRAPS__associated_with_systemic_lupus_erythematosus_ L2 - https://academic.oup.com/rheumatology/article-lookup/doi/10.1093/rheumatology/keh320 DB - PRIME DP - Unbound Medicine ER -