Zerkaoui Maria, Laarabi Fatima Zahra, Ajhoun Yousra, Chkirate Bouchra, Sefiani Abdelaziz
Human Genomic Centre, Faculty of Medicine and Pharmacy, Mohammed V University, Rabat, Morocco.
Department of Medical Genetics, National Institute of Health, Rabat, Morocco.
J Med Case Rep. 2018 Mar 1;12(1):53. doi: 10.1186/s13256-017-1552-4.
Familial Mediterranean fever is an autoinflammatory disease of unknown etiology, characterized clinically by recurrent attacks of sudden-onset fever with arthralgia and/or thoracoabdominal pain and pathogenetically by autosomal recessive inheritance due to a mutation in the MEFV gene. Behçet's disease is an inflammatory disease characterized by recurrent oral and genital aphthous ulcerations, uveitis, and skin lesions. Preliminarily, our literature review suggested that patients with familial Mediterranean fever who also have Behçet's disease have only a single mutated familial Mediterranean fever gene. The MEFV gene mutation responsible for familial Mediterranean fever is probably a susceptibility factor for Behçet's disease, particularly for patients with vascular involvement, and both disorders can occur concurrently in a patient, as in the present case.
A 10-year-old girl of Moroccan origin presented to our institution for genetic consultation for genetic testing of the MEFV gene. She had fever associated with abdominal and diffuse joint pain in addition to headache. These symptoms have oriented pediatricians to familial Mediterranean fever. The evolution was marked by Behçet's syndrome symptoms. Sanger sequencing followed by complete exome sequencing analysis of the MEFV gene for the proband mutation revealed a novel variant. We conclude that the novel single variant c.2078 T > A (p.Met693Lys) could be responsible for the association of familial Mediterranean fever and Behçet's disease.
To the best of our knowledge, this is the first report of a new variant in exon 10 of the MEFV gene in a Moroccan family. This novel variant should be listed in the MEFV sequence variant databases.
家族性地中海热是一种病因不明的自身炎症性疾病，临床特征为突发发热伴关节痛和/或胸腹疼痛反复发作，发病机制为MEFV基因突变导致的常染色体隐性遗传。白塞病是一种炎症性疾病，特征为复发性口腔和生殖器阿弗他溃疡、葡萄膜炎和皮肤病变。初步的文献综述表明，同时患有白塞病的家族性地中海热患者仅携带一个突变的家族性地中海热基因。导致家族性地中海热的MEFV基因突变可能是白塞病的一个易感因素，尤其是对于有血管受累的患者，并且这两种疾病可能会在同一患者中同时出现，如本病例所示。
一名来自摩洛哥的10岁女孩因MEFV基因的基因检测到本机构进行遗传咨询。她除头痛外，还伴有发热、腹痛和弥漫性关节疼痛。这些症状使儿科医生怀疑为家族性地中海热。病情发展以白塞综合征症状为特征。对先证者突变进行MEFV基因的桑格测序，随后进行全外显子组测序分析，发现了一个新的变异。我们得出结论，新的单变异c.2078 T＞A（p.Met693Lys）可能是家族性地中海热与白塞病关联的原因。
据我们所知，这是摩洛哥家族中MEFV基因第10外显子新变异的首次报告。这个新变异应列入MEFV序列变异数据库。
