ArticleAmerican journal of human genetics1998
Gene localization for an autosomal dominant familial periodic fever to 12p13.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 93 citations in OpenAlex.
- Management of Monogenic IL-1 Mediated Autoinflammatory Diseases in Childhood.Frontiers in immunology · 2021Review
- Autoinflammatory Diseases in ChildhoodBalkan medical journal · 2020Article
- Article
- Key facts and hot spots on tumor necrosis factor receptor-associated periodic syndrome.Clinical rheumatology · 2014Review
- Gene hunting in autoinflammation.Clinical and translational allergy · 2013Article
- Tumour necrosis factor receptor trafficking dysfunction opens the TRAPS door to pro-inflammatory cytokine secretion.Bioscience reports · 2012Review
- Periodic Fever syndromes.Current allergy and asthma reports · 2010Review
- [Molecular diagnostics of hereditary fever syndromes. Familial Mediterranean fever (FMF), hyperimmunoglobulin D syndrome (HIDS), tumor necrosis factor receptor-associated periodic syndrome (TRAPS), cryopyrin-associated periodic syndrome (CAPS: FCAS, MWS, NOMID/CINCA)].Zeitschrift fur Rheumatologie · 2009Article
- Falling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndrome.Arthritis research & therapy · 2007Review
- TNF-receptor-associated periodic syndrome (TRAPS): an autosomal dominant multisystem disorder.Clinical rheumatology · 2006Review
- Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene.Annals of the rheumatic diseases · 2006Article
- The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.American journal of human genetics · 2001Article
- Purification and characterization of PCR-inhibitory components in blood cells.Journal of clinical microbiology · 2001Article
- Periodic fevers enter the era of molecular diagnosis.BMJ (Clinical research ed.) · 2000Article
- Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44.American journal of human genetics · 1999Article
- Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population.American journal of human genetics · 1999Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report gene localization in a family with a benign autosomal dominant familial periodic fever (FPF) syndrome characterized by recurrent fever associated with abdominal pain. The clinical features are similar to the disorder previously described as familial Hibernian fever, and they differ from familial Mediterranean fever (FMF) in that FPF episodes usually do not respond to colchicine and FPF is not associated with amyloidosis. Frequent recombination with the marker D16S2622, <1 Mb from FMF, at 16p13.3, excluded allelism between these clinically similar conditions. Subsequently, a semiautomated genome search detected linkage of FMF to a cluster of markers at 12p13, with a multipoint LOD score of 6.14 at D12S356. If penetrance of 90% is assumed, the FPF gene maps to a 19-cM interval between D12S314 and D12S364; however, if complete penetrance is assumed, then FPF maps to a 9-cM region between D12S314 and D12S1695. This interval includes the dentatorubropallidoluysian atrophy locus, which, with FPF, gave a maximum two-point LOD score of 3.7 at a recombination fraction of 0. This is the first of the periodic-fever genes, other than FMF, to be mapped. Positional candidate genes may now be selected for mutation analysis to determine the molecular basis for FPF. Together with the recent identification of the defective gene in FMF, identification of a gene for FPF might provide new insights into the regulation of inflammatory responses.
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