腓骨肌萎缩症4K型1例
A case report of Charcot-Marie-Tooth disease type 4K
孙丽 1周露露 2郭虎2
作者信息
- 1. 南京医科大学附属儿童医院神经内科,江苏南京 210008;扬州市妇幼保健院儿科,江苏扬州 225000
- 2. 南京医科大学附属儿童医院神经内科,江苏南京 210008
- 折叠
摘要
目的 探讨常染色体隐性遗传腓骨肌萎缩症4K型(CMT4K)患儿的临床和基因型特点.方法 回顾性分析南京医科大学附属儿童医院确诊的1例腓骨肌萎缩症4K型患儿的临床资料.结果 患儿,男,1岁7月龄.运动发育落后4个月,肌张力低下,肌电图提示脱髓鞘性多发周围神经源性损害肌电改变,基因测序提示细胞色素C氧化酶组装因子(SURF1)基因有2个杂合突变,先证者之父在位点c.314_317delTGCC(p.L105Qfs*7)出现杂合变异,受检人之母在位点c.588+1_588+3delGTA(splicing)出现杂合变异,从而确诊CMT4K.结论 CMT4K为一种由SURF1突变所致的常染色体隐性遗传性疾病,表型呈临床异质性,本研究发现的杂合突变c.314_317delTGCC和c.588+1_588+3delGTA扩大了 SURF1基因突变谱.
Abstract
Objective To explore the clinical and genotypic characteristics of children with autosomal recessive Charcot-Marie-Tooth disease type 4(CMT4K).Methods The clinical data of a child with CMT4K diagnosed in Children's Hospital of Nanjing Medical University were retrospectively analyzed.Results The patient,male,is 1-year-old and 7-month-old,with delayed motor development by 4 months,low muscle tone,and electromyographic suggested demyelinating multiple peripheral neurogenic lesions.Gene sequencing revealed two heterozygous mutations in the SURF1 gene.The father of the subject showed heterozygous mutations at locus c.314_117delTGCC(p.L105Qfs*7),while the mother showed heterozygous mutations at locus c.588+1_588+3delGTA(splicing),leading to the diagnosis of CMT4K.Conclusion CMT4K is an auto-somal recessive inherited disease caused by SURF1 mutation,with clinical heterogeneity in phenotype.The heterozygous mutations c.314_117delTGCC and c.588+1_588+3delGTA in this study expanded the mutation spectrum of the SURF1 gene.
关键词
CMT4K/SURF1基因/临床表型Key words
Charcot-Marie-Tooth disease type 4/SURF1 gene/clinical phenotype引用本文复制引用
出版年
2024
NETL
NSTL
万方数据