Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever (original) (raw)
Abstract
The hyperimmunoglobulinemia D and periodic fever (hyper-IgD) syndrome is typified by recurrent febrile attacks with abdominal distress, joint involvement (arthralgias/arthritis), headache, skin lesions, and an elevated serum IgD level (>100U/ml). This familial disorder has been diagnosed in 56 subjects worldwide. As the hyper-IgD syndrome resembles familial Mediterranean fever, one could speculate that both result from mutations in the same gene. The gene causing familial Mediterranean fever (MEF) has been located on chromosome 16p. We have studied 10 families with 19 affected and 28 non-affected subjects. The clinical findings and IgD determinations from these families are compatible with autosomal recessive inheritance. Using highly polymorphic markers surrounding the MEF gene, only negative Lod scores were obtained, whereas haplotype analysis excluded this locus as the cause of the hyper-IgD syndrome. In addition, no indication for linkage was obtained with markers from other candidate gene regions on chromosomes 17q and 14q.
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Authors and Affiliations
- Department of Medicine, Division of General Internal Medicine, University Hospital St Radboud, P.O. Box 9101, 6500, HB Nijmegen, The Netherlands
Joost P. H. Drenth & Jos W. M. Van der Meer - Department of Human Genetics, University Hospital St Radboud, Nijmegen, The Netherlands
Edwin C. M. Mariman, Saskia D. Van der Velde-Visser & Hans-Hilger Ropers
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- Joost P. H. Drenth
You can also search for this author inPubMed Google Scholar - Edwin C. M. Mariman
You can also search for this author inPubMed Google Scholar - Saskia D. Van der Velde-Visser
You can also search for this author inPubMed Google Scholar - Hans-Hilger Ropers
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International Hyper-IgD Study Group
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Drenth, J.P.H., Mariman, E.C.M., Van der Velde-Visser, S.D. et al. Location of the gene causing hyperimmunoglobulinemia D and periodic fever syndrome differs from that for familial mediterranean fever.Hum Genet 94, 616–620 (1994). https://doi.org/10.1007/BF00206953
- Received: 08 June 1994
- Revised: 27 June 1994
- Issue Date: December 1994
- DOI: https://doi.org/10.1007/BF00206953