Comparative screening of FMF mutations in various communities of the Israeli society

Sharkia, Rajech; Mahajnah, Muhammad; Zalan, Abdelnaser; Athamna, Muhammad; Azem, Abdussalam; Badarneh, Khader; Faris, Fuad

doi:10.1016/j.ejmg.2013.04.002

Cited by 16 publications

(16 citation statements)

References 34 publications

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“…Most of the E148Q mutations were shown to be heterozygous or compound heterozygous with Exon 10 mutations in the populations of the countries where FMF is prevalent . An interesting finding is that more than half of Druze FMF patients with E148Q mutation were homozygous …”

Section: Discussionmentioning

confidence: 98%

“…Despite the fact that the frequency of E148Q differs according to ethnicity, most studies from different ethnic communities and countries support the idea of having a phenotypic effect of E148Q . In recent studies, E148Q allele frequency was found 25% in Jewish, Arab, and Druze patients living in Israel and 20% in Turkish FMF patients living in Turkey . It was also reported that 34% Japanese FMF patients and 17% of Azeri Turk patients living in Iran had E148Q mutation .…”

Section: Discussionmentioning

confidence: 99%

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Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

Aydın

Çakar

Özçakar

et al. 2019

Clinical Laboratory Analysis

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BackgroundFamilial Mediterranean fever (FMF) is the most common hereditary monogenic autoinflammatory disease caused by mutations in the MEFV gene. It is controversial whether E148Q alteration is an insignificant variant or a disease‐causing mutation. The aim of this study was to evaluate the clinical features and disease severity of FMF patients carrying E148Q mutation.MethodsFiles of FMF patients were retrospectively evaluated. Patients with at least one E148Q mutation were included to the study. The clinical characteristics and disease severity of the patients who were carrying only E148Q mutation were compared with the patients who were compound heterozygous for E148Q and homozygous for M694V mutation.ResultsThe study group comprised 33 patients who were homozygous or heterozygous for E148Q; 34 with compound heterozygous E148Q mutations and 86 patients who had homozygous M694V mutation. Patients who had only E148Q mutation were found to have the oldest mean age of disease onset and lowest mean disease severity score. Attack frequency and colchicine doses were lower in patients with only E148Q mutation as compared with the other two groups. The frequency of clinical findings such as fever, abdominal pain, arthralgia, and arthritis among the three groups was similar.ConclusionFamilial Mediterranean fever patients with only E148Q mutation are presenting with late‐onset and milder disease course despite having similar clinical findings as compared with patients who had other mutations. Finally, we imply that E148Q is a mutation and colchicine treatment should be given.

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Section: Discussionmentioning

confidence: 98%

Section: Discussionmentioning

confidence: 99%

Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

Aydın

Çakar

Özçakar

et al. 2019

Clinical Laboratory Analysis

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“…Such individuals are also usually associated with milder clinical features (Touitou, ; Solak et al., ). Recently, it was reported that p.Val726Ala is also predominant among Arabs, with an average frequency of 33% (Sharkia et al., ).…”

Section: Discussionmentioning

confidence: 99%

“…In general, p.Glu148Gln is characterized as a solely European mutation in populations where FMF is distinctly rare (Lidar & Livneh, ). However, it was recently reported that p.Glu148Gln is the second most frequent variant in Turks (18.3%) (Solak et al., ), Arabs (21%), and Jews (16%) (Sharkia et al., ). A report by Gershoni‐Baruch et al () described the clinical severity exhibited in compound heterozygous patients for p.Glu148Qln/p.Val726Ala to be as severe as the one observed in homozygous patients for p.Met694Val (Gershoni‐Baruch et al., ).…”

Section: Discussionmentioning

confidence: 99%

Familial Mediterranean Fever Associated withMEFVMutations in a Large Cohort of Cypriot Patients

Neocleous

Costi

Kyriakou

et al. 2014

Annals of Human Genetics

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SummaryFamilial Mediterranean fever (FMF) is caused by mutations in the MEFV gene and the spectrum of mutations among Greek-Cypriots with FMF-related symptoms was examined. Sequence analysis for exons 2, 3, 5, and 10 of the MEFV gene was performed in a cohort of 593 patients. A total of 70 patients carried mutations in the homozygote or compound heterozygote state, 128 were identified with one MEFV mutation and 395 had no mutations. Of the 268 identified alleles, p.Val726Ala (27.61%) was the most frequent followed by p.Met694Val (19.40%). The missense mutations p.Arg761His (3.73%) and p.Ala744Ser (2.24%) were identified as the rarest. An interesting finding is the high frequency (18.28%) of the complex p.Phe479Leu-p.Glu167Asp that was identified in 49 of the mutated alleles. The MEFV genotypes did not follow a binomial distribution and proved not to satisfy the HWE (P < 0.001). The high percentage (66.61%) of patients with unidentified mutations could be due to mutations in the rest of the coding or noncoding MEFV gene or due to mutations in other genes that are also causing Hereditary Recurrent Fevers. Results from this work indicate the high incidence of FMF in Cyprus and describe the spectrum of the mutations which occur in the country.

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“…Its underutilization of genetic counseling services (Sharkia et al, 2015) makes it susceptible to various inherited disorders (Abumwais, 2012;Sharkia et al, 2013;Zlotogora et al, 2003). These inherited disorders have a major impact on the Arab community's socioeconomic and the community health status.…”

Section: Discussionmentioning

confidence: 99%

Variations in Types of First-Cousin Marriages over a Two-Generation Period among Arabs in Israel

Sharkia¹,

Mahajnah²,

Athamna³

et al. 2015

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The consanguineous marriage phenomenon, particularly the first-cousin marriage type, had been common among different Arab societies and it was even regarded as integral to their culture. The purpose of our study was to determine the prevalence and trends of first-cousin marriage types over a period of two generations among Arab society in Israel. A specially designed questionnaire was used to survey the study sample that represented this society, and a comparative analysis was performed. During the two generations, the prevalence of first-cousin marriage types was found to be decreasing but still was most predominant among the various consanguineous marriage types. Among the first-cousin marriage types, the paternal subtype was reported to be the favored one in the two generations. Our study concluded that first-cousin marriage was still the preferable type in the Arab community of Israel.

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Comparative screening of FMF mutations in various communities of the Israeli society

Cited by 16 publications

References 34 publications

Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

Clinical features and disease severity of Turkish FMF children carrying E148Q mutation

Familial Mediterranean Fever Associated withMEFVMutations in a Large Cohort of Cypriot Patients

Variations in Types of First-Cousin Marriages over a Two-Generation Period among Arabs in Israel

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