MEFV基因的新发突变导致周期性发热  

Periodic Fever Caused by De Novo Variant in MEFV Gene

作　　者：袁超 喻昕 YUAN Chao;YU Xin(Scientific Research and Experiment Center,Zhaoqing Medical College,Zhaoqing Guangdong 526020)

机构地区：[1]肇庆医学高等专科学校科研实验中心,广东肇庆526020

出　　处：《湖北理工学院学报》2023年第6期52-55,共4页Journal of Hubei Polytechnic University

基　　金：广东省医学科研基金(项目编号:A2022056)。

摘　　要：对临床上发现的1例反复周期性发热的患者进行临床分析,患者表现为周期性发热,每次发热伴随咽炎、扁桃体肿大化脓、淋巴结肿大,临床诊断为周期性发热-阿弗他口炎-咽炎-淋巴结炎(PFAPA)综合征。采集患者及家属的外周血提取基因组DNA,对患者的基因组DNA进行全外显子组测序,使用Sanger测序对突变进行验证。遗传分析发现,该患者携带MEFV基因的新发突变(c.334G>A,p.E112Q),导致PFAPA综合征。该突变尚未见报道,是MEFV基因的新突变位点。该研究扩展了PFAPA综合征的突变谱,有助于该疾病的临床诊断和遗传咨询。A clinical analysis was performed on the patient with recurrent periodic fever.The patient presented with periodic fever,each accompanied by pharyngitis,enlarged and suppurated tonsils,and enlarged lymph nodes,was clinically diagnosed as periodic fever-avertebral stomatitis-pharyngitis-lymphadenitis(PFAPA) syndrome.Genomic DNA was collected from the peripheral blood of the patient and his family members,whole exome sequencing was performed on patient′s genomic DNA,and mutations were verified using Sanger sequencing.The genetic analysis showed that the patient carried a de novo mutation(c.334G>A,p.E112Q) in the MEFV gene that led to PFAPA syndrome.This mutation has not been reported yet,and it is a new mutation site of the MEFV gene.This study expands the mutational spectrum of PFAPA syndrome and contributes to its clinical diagnosis and genetic counseling.

关 键 词：周期性发热 MEFV基因 新发突变 

分 类 号：R394.3[医药卫生—医学遗传学]