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Gene localization for an autosomal dominant familial periodic fever to 12p13

Item Type:Article
Title:Gene localization for an autosomal dominant familial periodic fever to 12p13
Creators Name:Mulley, J. and Saar, K. and Hewitt, G. and Rueschendorf, F. and Phillips, H. and Colley, A. and Sillence, D. and Reis, A. and Wilson, M.
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.
Keywords:Linkage, Hibernian Fever, Periodic Fever, Chromosome 12p13
Source:American Journal of Human Genetics
Publisher:University of Chicago Press
Page Range:884-889
Date:April 1998
Official Publication:https://doi.org/10.1086/301793
PubMed:View item in PubMed

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