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Type: Journal article
Title: Gene localisation for an autosomal dominant familial periodic fever to 12p13.
Author: Mulley, J.
Saar, K.
Hewitt, G.
Rueschendorf, F.
Phillips, H.
Colley, A.
Sillence, D.
Reis, A.
Wilson, M.
Citation: American Journal of Human Genetics, 1998; 62(4):884-889
Publisher: CELL PRESS
Issue Date: 1998
ISSN: 0002-9297
Statement of
Mulley, John ; Saar, Kathrin ; Hewitt, Gerry ; Rüschendorf, Franz ; Phillips, Hilary ; Colley, Alison ; Sillence, David ; Reis, André ; Wilson, Meredith
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: Chromosomes, Human, Pair 12; Humans; Familial Mediterranean Fever; Chromosome Mapping; Pedigree; Recombination, Genetic; Genes, Dominant; Female; Male
RMID: 0030004356
DOI: 10.1086/301793
Appears in Collections:Genetics publications

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