Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group

Détails

ID Serval
serval:BIB_0EB38B31FF6E
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group
Périodique
Nature Genetics
Auteur(s)
Drenth  J. P., Cuisset  L., Grateau  G., Vasseur  C., van de Velde-Visser  S. D., de Jong  J. G., Beckmann  J. S., van der Meer  J. W., Delpech  M.
ISSN
1061-4036 (Print)
Statut éditorial
Publié
Date de publication
06/1999
Volume
22
Numéro
2
Pages
178-81
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jun
Résumé
Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is a rare, apparently monogenic, autosomal recessive disorder characterized by recurrent episodes of fever accompanied with lymphadenopathy, abdominal distress, joint involvement and skin lesions. All patients have high serum IgD values (>100 U/ml) and HIDS 'attacks' are associated with an intense acute phase reaction whose exact pathophysiology remains obscure. Two other hereditary febrile disorders have been described. Familial Mediterranean fever (MIM 249100) is an autosomal recessive disorder affecting mostly populations from the Mediterranean basin and is caused by mutations in the gene MEFV (refs 5,6). Familial Hibernian fever (MIM 142680), also known as autosomal dominant familial recurrent fever, is caused by missense mutations in the gene encoding type I tumour necrosis factor receptor. Here we perform a genome-wide search to map the HIDS gene. Haplotype analysis placed the gene at 12q24 between D12S330 and D12S79. We identified the gene MVK, encoding mevalonate kinase (MK, ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36), as a candidate gene. We characterized 3 missense mutations, a 92-bp loss stemming from a deletion or from exon skipping, and the absence of expression of one allele. Functional analysis demonstrated diminished MK activity in fibroblasts from HIDS patients. Our data establish MVK as the gene responsible for HIDS.
Mots-clé
Amino Acid Sequence Amino Acid Substitution Base Sequence DNA Primers Female Fever/enzymology/*genetics Humans Hypergammaglobulinemia/enzymology/*genetics *Immunoglobulin D Linkage (Genetics) Lod Score Male Periodicity Phosphotransferases (Alcohol Group Acceptor)/*genetics *Point Mutation Polymerase Chain Reaction Recurrence Syndrome
Pubmed
Web of science
Création de la notice
25/01/2008 16:18
Dernière modification de la notice
20/08/2019 12:35
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