中国实用儿科杂志2025，Vol.40Issue(1)：84-88,5.DOI:10.19538/j.ek2025010614
PRX基因新变异致早发型腓骨肌萎缩症4F型家系报道
A family with early-onset Charcot-Marie-Tooth disease(CMT)4F caused by a novel mutation of the PRX gene
摘要
Abstract
This paper retrospectively analyzes the clinical manifestations,neuroelectrophysiology,and genetic testing results of a 7-month-old boy,who was admitted to Department of Pediatrics of Hebei People's Hospital for treatment in May 2020 because of delayed motor development(four months delayed).He was with early-onset Charcot-Marie-Tooth disease(CMT)4F caused by a novel mutation of the PRX gene.Genetic testing showed that both the proband and his brother had homozygous frameshift mutation in the PRX gene(NM_181882.3)c.2320_2321 delinsTTC(p.V774Ffs*53),which was respectively inherited from their parents who were carriers.Literature analysis shows that children with this disease often exhibit delayed motor development milestones,symmetrical muscle atrophy at the distal ends of both lower limbs,sensory ataxia,decreased motor nerve conduction velocity,and demyelinating changes.Early genetic testing can help clarify the diagnosis and provide genetic counseling for the family.关键词
腓骨肌萎缩症4F型/Dejerine-Sottas病/Periaxin基因/临床表型Key words
Charcot-Marie-Tooth disease(CMT)4F/Dejerine-Sottas disease/periaxin gene/clinical phenotype分类
医药卫生引用本文复制引用
杨艳章,罗雷,王莉,陈凤琴,曹延延..PRX基因新变异致早发型腓骨肌萎缩症4F型家系报道[J].中国实用儿科杂志,2025,40(1):84-88,5.基金项目
河北省自然科学基金联合基金项目(H2022316005) （H2022316005）
