Department of Molecular Medicine, Faculty of Advanced Medical Sciences, Tabriz University of Medical Sciences, Tabriz, Iran.
Liver and Gastrointestinal Disease Research Centre, Tabriz University of Medical Sciences, Tabriz, Iran.
Ann Hum Genet. 2020 Jan;84(1):37-45. doi: 10.1111/ahg.12347. Epub 2019 Sep 11.
Familial Mediterranean fever (FMF) is common in Azari-Turkish people, one of the biggest ethnic groups in Iran. In this study, we sought to investigate the mutation spectrum of the MEFV gene and any genotype-phenotype correlations.
400 unrelated Azari-Turkish FMF patients were analyzed in this study. Mutations in exons 2, 3, 5, and 10 of the MEFV gene were investigated using direct Sanger sequencing, and their correlations with the clinical features of the patients were analyzed.
At least one mutation was detected in 248 (62%) patients. The most common mutations were M694V (26.25%) and E148Q (24.75%), respectively. Abdominal pain (65.2%) and fever 204 (51%) were the most frequent clinical problems in all subjects. The analysis recognized a novel missense mutation in the coding region of the MEFV gene, named P313H, which is the first report of a new mutation in exon 2 of the MEFV gene in an Azari-Turkish family.
Genotype-phenotype correlations obtained from this study would be helpful in the diagnosis and management of FMF patients in clinical situations. This novel missense mutation may provide useful evidence for further studies of FMF pathogenesis.
家族性地中海热（FMF）在伊朗最大的民族之一的阿扎里-土耳其人中很常见。在这项研究中，我们试图研究 MEFV 基因的突变谱以及任何基因型-表型相关性。
本研究分析了 400 名无关的阿扎里-土耳其 FMF 患者。使用直接 Sanger 测序法研究 MEFV 基因外显子 2、3、5 和 10 中的突变，并分析其与患者临床特征的相关性。
在 248 名（62%）患者中至少检测到一个突变。最常见的突变分别是 M694V（26.25%）和 E148Q（24.75%）。腹痛（65.2%）和发热 204 例（51%）是所有受试者中最常见的临床问题。分析发现 MEFV 基因编码区的一种新错义突变，命名为 P313H，这是 MEFV 基因exon 2 中首次报道的新突变。
本研究获得的基因型-表型相关性将有助于在临床情况下对 FMF 患者的诊断和管理。这种新的错义突变可能为进一步研究 FMF 的发病机制提供有用的证据。
