GTPBP3基因新发突变致联合氧化磷酸化缺陷症23型(附1例报告及文献复习)
Novel Mutations in the GTPBP3 Gene for Combined Oxidative Phosphorylation Deficiency Type 23:A Case Report and Literature Review
李琴英 1关荣源 2王蓓 2刘迟 3程冰苑 1孙一忞 4邬剑军4
作者信息
- 1. 上海市静安区中心医院,复旦大学附属华山医院静安分院康复医学科,上海 200040
- 2. 上海市静安区中心医院,复旦大学附属华山医院静安分院神经内科,上海 200040
- 3. 上海市静安区中心医院,复旦大学附属华山医院静安分院老年中心,上海 200040
- 4. 复旦大学附属华山医院神经内科,上海 200040;国家神经疾病医学中心,上海 200040
- 折叠
摘要
目的 总结联合氧化磷酸化缺陷症23型(COXPD23)的临床表型与基因型特征,提高临床医生对该类线粒体病的认识.方法 回顾性分析1例COXPD23患儿的临床症状、体格检查、实验室检查、影像学特征等资料,应用全外显子测序明确诊断,并结合复习国内外相关文献进行讨论.结果 患儿女性,5岁8月龄.临床表现为精神运动发育迟缓、智力下降、语言功能障碍,伴高乳酸血症,头颅MRI提示双侧基底节区及背侧丘脑、小脑上脚、小脑半球齿状核内见对称性异常信号影.全外显子测序显示患儿GTPBP3基因c.187C>T/c.776A>G(p.R63*/p.N259S)位点复合杂合突变,分别遗传自患儿父母(均为杂合状态),符合常染色体隐性遗传方式.该患儿为轻型病例,经过对症及康复治疗,病情平稳.随访至今,临床无心力衰竭表现.结论 COXPD23罕见,表型复杂,轻型以脑病和高乳酸血症为临床特征,完善基因检测有助于明确诊断.
Abstract
Aim To summarize the genotype-phenotype correlation of combined oxidative phosphorylation deficiency type 23(COXPD23)and improve the understanding of this type of mitochondrial disease.Methods The clinical data,including symptoms,physical examination,laboratory tests,imaging features of one child with COXPD23 was reported.The diagnosis was confirmed by whole exome sequencing.The clinical characteristics of diagnosis and treatment were analyzed and discussed combined with the literature.Results A child,female,5 years and 8 months old,clinically manifested as psychomotor retardation,mental decline,language dysfunction,hyperlactemia,and symmetric abnormal signal shadows in the bilateral basal ganglia area and dorsal thalamus,upper cerebellar foot,and cerebellar hemisphere dentate nucleus on cranial magnetic resonance.Whole exome sequencing showed that the GTPBP3 gene of the child had c.187C>T/c.776A>G(p.R63*/p.N259S)compound heterozygous mutation,which were inherited from the parents(all were heterozygous),which conformed to the autosomal recessive inheritance pattern.The child is a mild case of COXPD23.After symptomatic and rehabilitation treatment,the condition is stable.There are no manifestations of heart failure clinically with follow-up to date.Conclusion COXPD23 is rare,phenotypic complex disease,with encephalopathy and hyperlactemia as clinical features for mild type.Genetic detection can help to clarify the diagnosis.
关键词
联合氧化磷酸化缺陷症23型/GTPBP3基因/精神运动发育迟缓/高乳酸血症Key words
combined oxidative phosphorylation deficiency type 23/GTPBP3 gene/psychomotor retardation/hyperlactemia引用本文复制引用
出版年
2024
NETL
NSTL
万方数据