一例先天性肌营养不良患儿的临床特征及FKTN基因变异分析  

Analysis of clinical features and FKTN gene variant in a child with congenital muscular dystrophy

作　　者：张玉新 夏艳洁 吴庆华[2] 任依琳 孔祥东[2] 盛光耀[3] Zhang Yuxin;Xia Yanjie;Wu Qinghua;Ren Yilin;Kong Xiangdong;Sheng Guangyao(Department of Pediatrics,The First Affiliated Hospital of Henan University of Science and Technology,Luoyang,Henan 471003,China;Genetics and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China;Department of Pediatrics,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China)

机构地区：[1]河南科技大学第一附属医院儿科,洛阳471003 [2]郑州大学第一附属医院遗传与产前诊断中心,郑州450052 [3]郑州大学第一附属医院儿科,郑州450052

出　　处：《中华医学遗传学杂志》2022年第7期722-726,共5页Chinese Journal of Medical Genetics

基　　金：国家重点研发计划(2018YFC1002203)。

摘　　要：目的对一个肌酸激酶升高的患儿进行致病变异分析,为临床诊断提供依据。方法应用二代测序技术(肌营养不良相关基因检测包)对先证者进行基因检测,发现FKTN基因可疑位点后,用Sanger测序技术对先证者父母进行验证,明确先证者的病因。结果先证者FKTN基因有分别源自父亲的错义突变c.536G>C(p.R179T)和源自母亲的非移码缺失突变c.1299_1301delGTG(p.W434del),为复合杂合突变。结论FKTN基因c.536G>C(p.R179T)/c.1299_1301delGTG(p.W434del)变异是该家系可能的致病原因,新变异的检出扩充了先天性肌营养不良的基因突变谱。Objective To analyze the clinical features and genetic basis for a child featuring elevated creatine kinase(CK).Methods Next-generation sequencing(muscular dystrophy-related gene panel)was carried out for the proband.Candidate variants were verified by Sanger sequencing of the child and his parents.Results The child was found to harbor compound heterozygous variants of the FKTN gene,including a missense c.536G>C(p.R179T)variant from his father and a non-frameshift c.1299_1301delGTG(p.W434del)variant from his mother.Both variants were predicted to be pathogenic.Conclusion The compound heterozygous variants of the FKTN gene probably underlay the disease in this child.Above finding has expanded the mutation spectrum of congenital muscular dystrophy.

关 键 词：福山型先天性肌营养不良 先天性肌营养不良 FKTN基因 基因突变 

分 类 号：R723.13[医药卫生—儿科]