Next-generation screening of a panel of genes associated with periodic fever syndromes in patients with Familial Mediterranean Fever and their clinical characteristics
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Dosyalar
Tarih
2020
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Academic Press Inc.
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Familial Mediterranean Fever (FMF) is a hereditary fever syndrome that primarily affects Mediterranean populations. For the study, total number of 182 patients with FMF disease were enrolled and screening of a panel of genes, called “fever panel” which comprises 17 genes, was performed. The most common mutations in MEFV gene were homozygous M694V missense mutation (4.3%) and R202Q missense mutation (4.9%). The most common heterozygous mutations were R202Q (26.5%), M694V (25.9%) and E148Q (11.9%). Compound heterozygous and homozygous mutations were also detected. Also, different types of mutations were identified in NOD2, CARD14, NLRP12, NLRP3, NLRP7, IL1RN, LPIN2, TNFRSF1A, MVK and PSTPIP1 genes. Two novel missense variations in the MEFV gene, Gln34Pro and Ile247Val, which have not been previously reported in the databases, were identified. Also, Thr91Ile missense variation in the NOD2 gene, Gly461Cys missense variation in NLRP3 and Tyr732Stop nonsense variation in LPIN2 were firstly identified. The results of the current study suggest that in addition to the MEFV gene which has an important roles in FMF, molecular screening of other genes related to other autoinflammatory diseases might provide support in suspected cases and provide detailed information about the course of the disease. © 2020 Elsevier Inc.
Açıklama
Anahtar Kelimeler
Fever panel, FMF, MEFV, Next-generation sequencing, arginine, cysteine, glutamic acid, glutamine, isoleucine, methionine, proline, pyrin, threonine, tyrosine, valine, MEFV protein, human, pyrin, adolescent, adult, Article, CARD14 gene, controlled study, familial Mediterranean fever, female, gene, gene mutation, genetic association, genetic screening, hereditary periodic fever, heterozygosity, high throughput sequencing, homozygosity, human, IL1RN gene, LPIN2 gene, major clinical study, male, MEFV gene, middle aged, missense mutation, MVK gene, NLRP12 gene, NLRP3 gene, NLRP7 gene, NOD2 gene, nonsense mutation, priority journal, PSTPIP1 gene, TNFRSF1A gene, young adult, DNA sequence, familial Mediterranean fever, genetics, high throughput sequencing, mutation, syndrome, Adult, Familial Mediterranean Fever, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Mutation, Missense, Pyrin, Sequence Analysis, DNA, Syndrome, Young Adult
Kaynak
Genomics
WoS Q Değeri
Q1
Scopus Q Değeri
Q2
Cilt
112
Sayı
4
