Mejtoute Touhami, Sayel Hanane, El-Akhal Jamila, Moufid Fatima Z, Bouguenouch Laila, El Bouchikhi Ihssane, Hida Mustapha, Couissi Driss, Ouldim Karim
Medical Genetics and Oncogenetics Unit, Hassan II University Hospital, Fez, Morocco.
Department of Biology, Laboratory of Pharmacology, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.
Hum Genome Var. 2017 Jun 15;4:17023. doi: 10.1038/hgv.2017.23. eCollection 2017.
Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease that is inherited in an autosomal recessive manner and is caused by mutations in the gene. As the name indicates, FMF occurs within families and is more common in individuals of Mediterranean descent than in persons of any other ethnicity. To date, 314 mutations have been reported. We studied a Moroccan family with a total of five members, including a mother who was presenting with symptoms of FMF, while her four children remained asymptomatic. The five patients were screened by DNA sequencing of exon 2 and exon 10 of the gene. Then, complete exome sequencing analysis of the gene was done for the patients in whom a novel mutation was detected. This analysis identified a novel single base Cytosine (C) insertion mutation in the coding region of the gene, named c.441dupC (p. Glu148Argfs*5 or E148RfsX5), which resulted in a mutated Pyrin/Marenostrin protein. This is the first report of a new mutation in exon 2 of the gene in a Moroccan family. This novel insertion mutation may provide important information for further studies of FMF pathogenesis.
家族性地中海热（FMF）是一种遗传性自身炎症性疾病，以常染色体隐性方式遗传，由该基因的突变引起。顾名思义，FMF在家族中出现，在地中海血统的个体中比在任何其他种族的个体中更常见。迄今为止，已报道了314种突变。我们研究了一个共有五名成员的摩洛哥家庭，其中一位母亲表现出FMF症状，而她的四个孩子没有症状。通过对该基因的外显子2和外显子10进行DNA测序对这五名患者进行了筛查。然后，对检测到新突变的患者进行该基因的全外显子组测序分析。该分析在该基因的编码区鉴定出一种新的单碱基胞嘧啶（C）插入突变，命名为c.441dupC（p.Glu148Argfs*5或E148RfsX5），其导致了突变的吡啉/马雷诺斯特林蛋白。这是摩洛哥家庭中该基因外显子2新突变的首次报告。这种新的插入突变可能为FMF发病机制的进一步研究提供重要信息。
