Sequence analysis in Familial Mediterranean Fever patients with no confirmatory genotype.

Rheumatology International
Vasiliki SgouropoulouMaria Trachana

Abstract

Familial Mediterranean Fever (FMF) is a genetic disorder of the innate immunity characterized by chronic inflammatory state. The diagnosis is mainly based on clinical criteria and supported by genotyping, especially in atypical phenotypes. The primary objective was to depict the Familial Mediterranean Fever (FMF) genotype of Greek patients and investigate the contribution of Next Generation Sequencing (NGS) beyond the contemporary techniques [(Polymerase Chain Reaction (PCR)/hybridization and Non-Isotopic RNase Cleavage Assay (NIRCA). The secondary objective was to unravel any associations between the mutated genes with the disease course and response to treatment. In this single center, retrospective study 31 patients with clinical diagnosis with FMF, but non-conclusive genetic analysis with PCR/hybridization and NIRCA, underwent NGS genotyping. PCR/NIRCA detected ≥ 1 mutation in 25/31 patients, most frequently M694V (29%), while NGS in 26/31 (83.9%), most frequently R202Q (61.3%). NGS genetically confirmed the clinical diagnosis (heterozygosity to compound or complex genotype) in 19 (61.3%) patients of our cohort. R202Q was significantly more prevalent by NGS than by contemporary techniques (61.3 vs 12.9%, p = 0.0002) and was...Continue Reading

References

Sep 1, 1997·Nature Genetics·UNKNOWN French FMF Consortium
Mar 15, 2003·Rheumatic Diseases Clinics of North America·Raquel CuchacovichAna Maria Santos
Apr 16, 2003·Annals of the Rheumatic Diseases·K KonstantopoulosH M Moutsopoulos
Oct 1, 2013·Cell·Daniel C KoboldtElaine R Mardis
Apr 11, 2014·Clinical Rheumatology·Elif ComakIbrahim Keser
Sep 20, 2015·Annals of the Rheumatic Diseases·Marta RusminiIsabella Ceccherini
Feb 12, 2017·Cell·Alexander M AravanisRichard D Klausner
Jul 25, 2017·The American Journal of Pathology·Jonathan D MarottiGregory J Tsongalis
Apr 26, 2019·Annals of the Rheumatic Diseases·Marco GattornoUNKNOWN Eurofever Registry and the Paediatric Rheumatology International Trials Organisation (PRINTO)
Nov 7, 2019·The Eurasian Journal of Medicine·Gokce CelepRıdvan Guckan

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