Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype–phenotype correlation in children

Yılmaz, Resul; Özer, Samet; Özyurt, Hüseyın; Erkorkmaz, Ünal; Şahín, Şükran

doi:10.1111/j.1440-1754.2009.01587.x

Cited by 29 publications

(31 citation statements)

References 30 publications

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“…It is caused by mutations in the MEFV gene, which consists of ten exons and is located on chromosome 16p13.3 [1,2]. The MEFV gene encodes pyrin/marenostrin protein, which is expressed primarily in the myeloid cell lineage and belongs to a class of proteins involved in the regulation of apoptosis, cytokine secretion and cytoskeletal signaling [3][4][5].…”

Section: Introductionmentioning

confidence: 99%

The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever

Dündar

Kiraz²,

Balta

et al. 2013

Modern Rheumatology

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Section: Introductionmentioning

confidence: 99%

The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever

Dündar

Kiraz²,

Balta

et al. 2013

Modern Rheumatology

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“…These pathways lead to apoptosis-associated protein expression and antiinflammatory activity. 7 Up to the present time, over 283 gene alterations (mutations or polymorphisms) in the MEFV gene have been described, of which 12 are the most frequent. 8 In the majority (80%) of FMF cases, the mutations reside within the last exon.…”

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confidence: 99%

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

et al. 2015

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Objectives:This study aims to investigate the clinical impact of the R202Q (c.605G>A) alteration of Mediterranean fever (MEFV) gene in children with familial Mediterranean fever (FMF). Patients and methods: Medical records of 115 patients (51 males, 64 females; mean age 6.6±3.8 years; range 8 months to 15.8 years) presenting with FMF pre-diagnosis were examined. Patients were classified into two groups based on number of mutated alleles (one-mutant allele and twomutant alleles), and these groups were classified into three subgroups (Group 1; subgroup 1: M694V/R202Q, subgroup 2: M694V/other, subgroup 3: other/other, and Group 2; subgroup 4: R202Q/-, subgroup 5: other/-, subgroup 6: -/-). Sex, age, abdominal pain, fever, arthritis or arthralgia, myalgia, erysipelas-like erythema, chest pain, amyloidosis, family history of FMF, and definitive FMF frequency were compared between groups. Results: The most common allele alterations were the heterozygous R202Q alteration (27%) and the compound heterozygous mutation M694V/ R202Q (20.9%). The R202Q alteration of MEFV gene was detected in 76 patients (66%) (15 homozygous). There was non-M694V (E148Q, V726A) mutation in two of these patients. One (50%) of the patients with isolated R202Q homozygous alteration and six (19%) of the patients with isolated R202Q heterozygous alteration had definitive FMF. In the two-mutant allele group; abdominal pain, fever, arthritis/arthralgia, and definitive FMF frequency were lower in subgroup 1 than subgroup 2. There was no significant difference in clinical findings and definitive FMF frequency between subgroup 2 and subgroup 3. In the one-mutant allele group, clinical findings did not differ between subgroups. Conclusion: R202Q alteration of the MEFV gene may lead to symptoms consistent with FMF. However, R202Q/M694V compound heterozygosity is more associated with mild phenotype than compound heterozygous mutation of M694V.

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“…FMF is an autosomal recessive inflammatory disorder affecting people originating from areas around the Mediterranean Sea basin, due to mutations in the MEFV (MEditerranean FeVer) gene (Medlej‐Hashim et al, 2005; Mattit et al, 2006). More than 70 MEFV pathogenic mutations have been identified, the five most common (representing 80% of the total) being M694V, V726A, M694I, M680I in exon 10, and E148Q in exon 2 (Medlej‐Hashim et al, 2005; El Shanti et al, 2006; Yilmaz et al, 2009; Moradian et al, 2010).…”

Section: Methodsmentioning

confidence: 99%

Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

Gialluisi

Pippucci

Anikster

et al. 2011

Annals of Human Genetics

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SummaryIn principle mutational records make it possible to estimate frequencies of disease alleles (q) for autosomal recessive disorders using a novel approach based on the calculation of the Homozygosity Index (HI), i.e., the proportion of homozygous patients, which is complementary to the proportion of compound heterozygous patients P(CH). In other words, the rarer the disorder, the higher will be the HI and the lower will be the P(CH). To test this hypothesis we used mutational records of individuals affected with Familial Mediterranean Fever (FMF) and Phenylketonuria (PKU), born to either consanguineous or apparently unrelated parents from six population samples of the Mediterranean region. Despite the unavailability of precise values of the inbreeding coefficient for the general population, which are needed in the case of apparently unrelated parents, our estimates of q are very similar to those of previous descriptive epidemiological studies. Finally, we inferred from simulation studies that the minimum sample size needed to use this approach is 25 patients either with unrelated or first cousin parents. These results show that the HI can be used to produce a ranking order of allele frequencies of autosomal recessive disorders, especially in populations with high rates of consanguineous marriages.

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Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype–phenotype correlation in children

Cited by 29 publications

References 30 publications

The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever

The role of TNF-α and PAI-1 gene polymorphisms in familial Mediterranean fever

Clinical Significance of R202Q Alteration of MEFV Gene in Children With Familial Mediterranean Fever

Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI)

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