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Guidelines for the genetic diagnosis of hereditary recurrent fevers

Identifieur interne : 005535 ( Main/Exploration ); précédent : 005534; suivant : 005536

Guidelines for the genetic diagnosis of hereditary recurrent fevers

Auteurs : Y. Shinar [Israël] ; L. Obici [Italie] ; I. Aksentijevich [États-Unis] ; B. Bennetts [Australie] ; F. Austrup [Allemagne] ; I. Ceccherini [Italie] ; J M Costa [France] ; A. De Leener [Belgique] ; M. Gattorno [Italie] ; U. Kania [Pologne] ; I. Kone-Paut [France] ; S. Lezer [Israël] ; A. Livneh [Israël] ; I. Moix ; R. Nishikomori [Japon] ; S. Ozen [Turquie] ; L. Phylactou [Chypre (pays)] ; L. Risom [Danemark] ; D. Rowczenio [Royaume-Uni] ; T. Sarkisian [Arménie] ; M E Van Gijn [Pays-Bas] ; M. Witsch-Baumgartner [Autriche] ; M. Morris [Suisse] ; H M Hoffman [États-Unis] ; I. Touitou [France]

Source :

RBID : ISTEX:30D0A70C981BD2F8DD91F171E018CC5069790381

Descripteurs français

English descriptors

Abstract

Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.

Url:
DOI: 10.1136/annrheumdis-2011-201271


Affiliations:


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<term>Medical research</term>
<term>Mefv</term>
<term>Mefv gene</term>
<term>Mild phenotype</term>
<term>Molecular analysis</term>
<term>Molecular geneticists</term>
<term>Molecular genetics</term>
<term>Mutation</term>
<term>Normal letters</term>
<term>Other hrfs</term>
<term>Parental testing</term>
<term>Pathogenic</term>
<term>Pathogenic sequence variants</term>
<term>Pathogenic variant</term>
<term>Pathogenic variants</term>
<term>Periodic fever</term>
<term>Periodic syndrome</term>
<term>Phenotype</term>
<term>Possible association</term>
<term>Prenatal diagnosis</term>
<term>Presymptomatic diagnosis</term>
<term>Rare diseases</term>
<term>Rare variants</term>
<term>Recurrent bouts</term>
<term>Reference sequence</term>
<term>Relevant literature</term>
<term>Rheum</term>
<term>Rheumatology</term>
<term>Sequence variant</term>
<term>Sequence variants</term>
<term>Syndrome</term>
<term>Tnfrsf1a</term>
<term>Tumour necrosis factor</term>
<term>Undetected variants</term>
<term>Variant</term>
<term>Various genes</term>
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<keywords scheme="Pascal" xml:lang="fr">
<term>Diagnostic</term>
<term>Fièvre périodique héréditaire</term>
<term>Génétique</term>
<term>Rhumatologie</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en">
<term>Allele</term>
<term>Arthritis rheum</term>
<term>Best practice guidelines</term>
<term>Carrier status</term>
<term>Causative genes</term>
<term>Centre</term>
<term>Clinical diagnosis</term>
<term>Clinical judgement</term>
<term>Clinical reference centres</term>
<term>Clinician</term>
<term>Complex allele</term>
<term>Compound heterozygosity</term>
<term>Compound heterozygote</term>
<term>Contact information</term>
<term>Diagnosis</term>
<term>Diagnostic laboratory</term>
<term>Diagnostic score</term>
<term>Dominant diseases</term>
<term>Exon</term>
<term>Expert clinician</term>
<term>External quality assessment</term>
<term>Familial</term>
<term>Familial mediterranean fever</term>
<term>Fever syndromes</term>
<term>Gene</term>
<term>Gene variants</term>
<term>General population</term>
<term>Genet</term>
<term>Genetic</term>
<term>Genetic counselling</term>
<term>Genetic diagnosis</term>
<term>Genetic result</term>
<term>Genetic results</term>
<term>Genetic testing</term>
<term>Genetics</term>
<term>Genetics quality network</term>
<term>Geneva university hospitals</term>
<term>Genotype</term>
<term>Guideline</term>
<term>Hereditary</term>
<term>Hereditary syndromes</term>
<term>Hgvs nomenclature</term>
<term>Hrfs</term>
<term>Human genetics</term>
<term>Human genome variation society</term>
<term>Innate immunity</term>
<term>Judgement</term>
<term>Medical genetics</term>
<term>Medical research</term>
<term>Mefv</term>
<term>Mefv gene</term>
<term>Mild phenotype</term>
<term>Molecular analysis</term>
<term>Molecular geneticists</term>
<term>Molecular genetics</term>
<term>Mutation</term>
<term>Normal letters</term>
<term>Other hrfs</term>
<term>Parental testing</term>
<term>Pathogenic</term>
<term>Pathogenic sequence variants</term>
<term>Pathogenic variant</term>
<term>Pathogenic variants</term>
<term>Periodic fever</term>
<term>Periodic syndrome</term>
<term>Phenotype</term>
<term>Possible association</term>
<term>Prenatal diagnosis</term>
<term>Presymptomatic diagnosis</term>
<term>Rare diseases</term>
<term>Rare variants</term>
<term>Recurrent bouts</term>
<term>Reference sequence</term>
<term>Relevant literature</term>
<term>Rheum</term>
<term>Sequence variant</term>
<term>Sequence variants</term>
<term>Syndrome</term>
<term>Tnfrsf1a</term>
<term>Tumour necrosis factor</term>
<term>Undetected variants</term>
<term>Variant</term>
<term>Various genes</term>
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<term>Génétique</term>
<term>Recherche médicale</term>
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<front>
<div type="abstract">Hereditary recurrent fevers (HRFs) are a group of monogenic autoinflammatory diseases characterised by recurrent bouts of fever and serosal inflammation that are caused by pathogenic variants in genes important for the regulation of innate immunity. Discovery of the molecular defects responsible for these diseases has initiated genetic diagnostics in many countries around the world, including the Middle East, Europe, USA, Japan and Australia. However, diverse testing methods and reporting practices are employed and there is a clear need for consensus guidelines for HRF genetic testing. Draft guidelines were prepared based on current practice deduced from previous HRF external quality assurance schemes and data from the literature. The draft document was disseminated through the European Molecular Genetics Quality Network for broader consultation and amendment. A workshop was held in Bruges (Belgium) on 18 and 19 September 2011 to ratify the draft and obtain a final consensus document. An agreed set of best practice guidelines was proposed for genetic diagnostic testing of HRFs, for reporting the genetic results and for defining their clinical significance.</div>
</front>
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<li>Hovedstaden</li>
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<li>Nouvelle-Galles du Sud</li>
<li>Occitanie (région administrative)</li>
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<li>Île-de-France</li>
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