Dataset Information

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

ABSTRACT: BACKGROUND:Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene. METHODS:In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January?December 2017, were retrospectively reviewed to identify the frequency of MEFV gene mutations by using next generation sequencing. RESULTS:Eighteen different mutations, 45 different genotypes and a novel exon 4 (I423T) mutation were identified in this study. This mutation is the fourth mutation identified in exon 4.The most frequent mutation was R202Q, followed by M694V, E148Q, M680I, R761H, V726A and R354W. CONCLUSIONS:One of the most important aims of this study is to investigate the MEFV mutation type and genotype of migrants coming to Sanliurfa after the civil war of Syria. This study also examines the effect of the condition on the region’s gene pool and the distribution of different types of mutations. Our results indicated that MEFV mutations are highly heterogeneous in our patient population, which is consistent with the findings of other studies in our region. Previously used methods, such as Restriction Fragment Length Polymorphism (RFLP), do not define uncommon or especially novel mutations. Therefore, Next Generation Sequencing (NGS) analysis of the MEFV gene could be useful for finding novel mutations, except for those located on exon 2 and 10.

SUBMITTER: Gumus E

PROVIDER: S-EPMC5977144 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Gumus Evren E

Journal of clinical medicine 20180507 5

<h4>Background</h4>Familial Mediterranean Fever (FMF) is a genetic disorder characterized by recurrent episodes of fever and abdominal pain. Mutations in the Mediterranean fever (MEFV) gene are localized on the p arm of chromosome 16. Over 333 MEFV sequence variants have been identified so far in FMF patients, which occur mostly in the 2nd and 10th exons of the gene.<h4>Methods</h4>In this study, 296 unrelated patients with clinical suspicion of FMF, which were admitted during January⁻December 2 ...[more]

PMID: 29735907

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Project description:The civil war in Syria including the deliberate targeting of healthcare services resulted in a complex humanitarian emergency, seriously affecting children's health. The objectives of this study are to document diagnoses and disease categories in Northern Syrian children after four years of conflict, and to document infectious diseases and injuries in this vulnerable population.In a prospective cross-sectional observational sample study conducted in May 2015, healthcare workers registered demographics, comorbidities, and diagnoses (categorised according to the International Classification of Diseases version 10) in children visited at home and in internally displaced persons camps in four Syrian governorates.Of 1080 filled-out records, 1002 were included. Children originated from Aleppo (41%), Idleb (36%), Hamah (15%) and Lattakia (8%). Median age was 6 years (0-15; IQR 3-11), 61% were boys, 40% were younger than 5 years old. Children suffered from respiratory (29%), neurological (19%), digestive (17%), eye (5%) and skin (5%) diseases. Clinical malnutrition was seen in 4%, accidental injury in 3%, intentional injury in 1%, and mental disorders in 2%. Overall, 64% had features of infectious diseases (OR 0.635; CI 0.605-0.665). Most common comorbidities were chronic respiratory diseases (14, malnutrition (5%), acute flaccid paralysis (5%), and epilepsy (4%). Logistic regression analysis indicated that the risk for children to have communicable diseases was higher in Aleppo than in Idleb (OR 1.7; CI 1.2-2.3), Hamah (OR 4.9; CI 3.3-7.5), or Lattakia (OR 5.5; CI 3.3-9.3). Children in Aleppo and Lattakia were more at risk to be injured than in Idleb (OR 5.6; CI 2.1-14.3), or in Hamah (OR 5.9; CI 1.4-25.6), but more often from intentional violence in Lattakia. Mental problems were more prominent in Hamah.Four years far in the conflict, 64% of the studied children in four Northern Syrian governorates suffer from infections, mostly from respiratory, neurological and digestive origin, while 4% was injured or victim of intentional aggression. Substandard living conditions and the lack of paediatric healthcare put Syrian children at risk for serious infections, epidemics and morbidity, and ask for urgent international humanitarian relief efforts.

Dataset Information

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Publications

The Frequency of MEFV Gene Mutations and Genotypes in Sanliurfa Province, South-Eastern Region of Turkey, after the Syrian Civil War by Using Next Generation Sequencing and Report of a Novel Exon 4 Mutation (I423T).

Similar Datasets

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