MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever

Çekin, Nilgün; Akyurek, Murat Eser; Pınarbaşı, Ergün; Özen, Filiz

doi:10.1016/j.gene.2017.05.013

Cited by 70 publications

(68 citation statements)

References 35 publications

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“…Our patient had the Hc/Hz syndrome as defined clinically and by serum analyses, not familial Mediterranean fever (FMF) or PV/ET, and did not harbour any mutations in the PSTPIP1 or JAK2 genes, but only a compound heterozygosity for MEFV mutations. Compared to previously known cases, this patient displays symptoms not typical for Hc/Hz or FMF [15]. Overall, the severity of symptoms in this case seems to be more pronounced.…”

Section: Discussioncontrasting

confidence: 54%

Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia

Isaksson

Farkas

Müller

et al. 2017

Clinical and Experimental Immunology

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A child, 2 years with the 'hypercalprotectinaemia with hyperzincaemia' clinical syndrome, presented with atypical symptoms and signs, notably persistent fever of approximately 38°C, thrombocythaemia of > 700 × 10 /l and a predominance of persistent intestinal symptoms. In an effort to find a cure by identifying the dysregulated pathways we analysed whole-genome mRNA expression by the Affymetrix HG U133 Plus 2·0 array in blood on three occasions 3-5 months apart. Major up-regulation was demonstrated for the Janus kinase/signal transducer and activators of transcription (JAK/STAT) pathway including, in particular, CD177, S100A8, S100A9 and S100A12, accounting for the thrombocytosis; a large number of interleukins, their receptors and activators, accounting for the febrile apathic state; and the high mobility group box 1 (HMBG1) gene, possibly accounting for part of the intestinal symptoms. These results show that gene expression array technology may assist the clinician in the diagnostic work-up of individual patients with suspected syndromal states of unknown origin, and the expression data can guide the selection of optimal treatment directed at the identified target pathways.

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Section: Discussioncontrasting

confidence: 54%

Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia

Isaksson

Farkas

Müller

et al. 2017

Clinical and Experimental Immunology

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“…Data reinforce the evidence that FMF‐causative mutations have a peculiar geographic distribution, while symptom severity is mostly dependent on ethnic background. In fact, in the FMF cohort described by Cekin et al, the R761H had a modest 0.9% frequency. Furthermore, in the web‐based collection of genotype‐phenotype association recently published by Papa et al, the compound heterozygotes E148Q/R761H show a much earlier onset of symptoms, compared to the onset observed in our patients with identical genotype, recently discussed by Stella et al Therefore, the recent literature reinforces our previous report suggesting that FMF clinical presentation can be highly variable and have a population specific genetic and morbidity.…”

Section: A Novel Cluster Of Patients With Familial Mediterranean Fevementioning

confidence: 87%

Research update for articles published in EJCI in 2017

Arellano-Orden

Bacopoulou

Băicuș

et al. 2019

Eur J Clin Investigation

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“…Human Leukocyte Antigen (HLA) gene alleles have been associated with susceptibility to diabetes and SARS-CoV-2 30 . The genetic propensity in southern European populations for mutations in the pyrin-encoding Mediterranean Fever gene (MEFV) may elevate levels of pro-inflammatory molecules, leading to a cytokine storm 31 and greater severity of COVID-19 [32][33][34][35] . Identifying those individuals most at-risk for severe COVID-19 infection, and determining the molecular and physiological basis for this risk, would enable more informed public health decisions and interventions.…”

Section: Introductionmentioning

confidence: 99%

Differential expression of COVID-19-related genes in European Americans and African Americans

Singh

Wurtele

2020

Preprint

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The Coronavirus disease 2019 (COVID-19) pandemic has affected African American populations disproportionately in regards to both morbidity and mortality. A multitude of factors likely account for this discrepancy. Gene expression represents the interaction of genetics and environment. To elucidate whether levels of expression of genes implicated in COVID-19 vary in African Americans as compared to European Americans, we re-mine The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) RNA-Seq data. Multiple genes integral to infection, inflammation and immunity are differentially regulated across the two populations. Most notably, F8A2 and F8A3, which encode the HAP40 protein that mediates early endosome movement in Huntington’s Disease, are more highly expressed by up to 24-fold in African Americans. Such differences in gene expression can establish prognostic signatures and have critical implications for precision treatment of diseases such as COVID-19. We advocate routine inclusion of information such as postal code, education level, and profession (as a proxies for socioeconomic condition) and race in the metadata about each individual sampled for sequencing studies. This relatively simple change would enable large-scale data-driven approaches to dissect relationships among race, socio-economic factors, and disease.

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MEFV mutations and their relation to major clinical symptoms of Familial Mediterranean Fever

Cited by 70 publications

References 35 publications

Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia

Whole genome microarray expression analysis in blood identifies pathways linked to signs and symptoms of a patient with hypercalprotectinaemia and hyperzincaemia

Research update for articles published in EJCI in 2017

Differential expression of COVID-19-related genes in European Americans and African Americans

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