RRM2B基因突变致线粒体DNA耗竭综合征:两例不同类型(8A和8B)患儿的临床特点和基因分析
Mitochondrial DNA Depletion Syndrome Caused by RRM2B Gene Mutation:Clinical Characteristics and Genetic Analysis of Two Cases with Different Types(8A and 8B)
邓琳 1逯军2
作者信息
- 1. 570208 海南省海口市,中南大学湘雅医学院附属海口医院儿童医学部
- 2. 570208 海南省海口市,中南大学湘雅医学院附属海口医院儿童医学部;524000 广东省湛江市,广东医科大学附属医院儿童医学中心
- 折叠
摘要
RRM2B基因突变相关疾病根据遗传方式和临床表型可分为线粒体DNA耗竭综合征8A型(MTDPS8A),线粒体DNA耗竭综合征 8B型(MTDPS8B),锥杆营养不良、感音神经性耳聋和范可尼型肾功能障碍(RCDFRD),常染色体显性进行性眼外肌麻痹伴线粒体DNA缺失 5 型(PEOA5)这 4 种类型.其中MTDPS8A、MTDPS8B均属于线粒体DNA耗竭综合征,遗传方式相同,在疾病早期临床表型复杂且具有异质性,难以鉴别.本文通过系统回顾分析 2例分别确诊MTDPS8A、MTDPS8B患儿的临床特点、基因检测结果、诊治经过等病例资料,并复习相关文献来总结这两型的遗传学特点,为今后遇到疑似病例提供诊断思路,进一步提高RRM2B基因突变相关线粒体脑肌病的临床诊断率,也有助于评估预后情况.
Abstract
RRM2B gene mutation-related diseases can be divided into four types according to genetic pattern and clinical phenotype of mitochondrial DNA depletion syndrome 8A(MTDPS8A),mitochondrial DNA depletion syndrome 8B(MTDPS8B),rod-cone dystrophy,sensorineural deafness,and fanconi-type renal dysfunction(RCDFRD),progressive external ophthalmoplegia with mitochondrial and deletions,autosomal dominant 5(PEOA5).Among them,MTDPS8A and MTDPS8B are both mitochondrial DNA depletion syndromes with the same genetic pattern,and the clinical phenotypes are complex and heterogeneous in the early stage,making it difficult to identify them.This paper systematically reviewed and analyzed the clinical characteristics,genetic test results,diagnosis and treatment process and other case data of two children diagnosed with MTDPS8A and MTDPS8B,and reviewed relevant literature to summarize the genetic characteristics of these two types,so as to provide diagnostic ideas for future suspected cases and further improve the clinical diagnosis rate of RRM2B mutation-related mitochondrial encephalomyopathy,which also helps to assess the prognosis.
关键词
RRM2B基因/线粒体DNA耗竭综合征/8A型/线粒体DNA耗竭综合征/8B型/基因检测/全外显子测序Key words
RRM2B gene/Mitochondrial DNA depletion syndrome 8A/Mitochondrial DNA depletion syndrome 8B/Genetic testing/Whole-exome sequencing引用本文复制引用
基金项目
海南省重点研发计划项目(ZDYF2021SHFZ241)
出版年
2024
国家科技期刊平台
NSTL
万方数据