【C12orf65基因突变引起的复合氧化磷酸化缺陷7型1例报告及文献复习】。

Q3 Medicine
Xiao-Yi Chen, Yong-Jie Zhu, Jie Deng, Yan-Li Ma, Jun-Fang Suo, Yuan Wang, Yuan-Ning Ma
{"title":"【C12orf65基因突变引起的复合氧化磷酸化缺陷7型1例报告及文献复习】。","authors":"Xiao-Yi Chen, Yong-Jie Zhu, Jie Deng, Yan-Li Ma, Jun-Fang Suo, Yuan Wang, Yuan-Ning Ma","doi":"10.7499/j.issn.1008-8830.2409063","DOIUrl":null,"url":null,"abstract":"<p><strong>Objectives: </strong>To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the <i>C12orf65</i> gene, and to enhance the awareness of this disease.</p><p><strong>Methods: </strong>A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes.</p><p><strong>Results: </strong>A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the <i>C12orf65</i> gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients.</p><p><strong>Conclusions: </strong>COXPD7 associated with the <i>C12orf65</i> gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.</p>","PeriodicalId":39792,"journal":{"name":"中国当代儿科杂志","volume":"27 2","pages":"205-211"},"PeriodicalIF":0.0000,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838037/pdf/","citationCount":"0","resultStr":"{\"title\":\"[Combined oxidative phosphorylation deficiency type 7 caused by <i>C12orf65</i> gene mutations: a case report and literature review].\",\"authors\":\"Xiao-Yi Chen, Yong-Jie Zhu, Jie Deng, Yan-Li Ma, Jun-Fang Suo, Yuan Wang, Yuan-Ning Ma\",\"doi\":\"10.7499/j.issn.1008-8830.2409063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objectives: </strong>To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the <i>C12orf65</i> gene, and to enhance the awareness of this disease.</p><p><strong>Methods: </strong>A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes.</p><p><strong>Results: </strong>A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the <i>C12orf65</i> gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients.</p><p><strong>Conclusions: </strong>COXPD7 associated with the <i>C12orf65</i> gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.</p>\",\"PeriodicalId\":39792,\"journal\":{\"name\":\"中国当代儿科杂志\",\"volume\":\"27 2\",\"pages\":\"205-211\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-02-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11838037/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国当代儿科杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.7499/j.issn.1008-8830.2409063\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国当代儿科杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.7499/j.issn.1008-8830.2409063","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
引用次数: 0

摘要

目的:探讨由C12orf65基因突变引起的复合氧化磷酸化缺陷型7 (COXPD7)的临床特点及基因突变特点,提高对该病的认识。方法:纳入2021年在郑州大学附属儿童医院神经内科诊断为COXPD7的1例患儿,以及文献报道的10例患儿。分析所有受试者的基因型和临床表型。结果:共纳入11例COXPD7患者,其中1例为本研究报道,10例为文献报道。11例患者中,C12orf65基因纯合突变9例,复合杂合突变2例,鉴定为移码或无义突变。发病年龄从1天到2岁不等,临床表现为视神经萎缩,智力和运动发育迟缓。8例表现为眼外麻痹,5例表现为痉挛性麻痹。颅脑磁共振成像显示视神经萎缩10例脑干信号异常3例脑干磁共振波谱显示乳酸峰。结论:与C12orf65基因相关的COXPD7是纯合或复合杂合突变的结果,主要临床表现为视神经萎缩,智力和运动发育迟缓。有些患者还可能出现痉挛性麻痹或眼外麻痹。颅脑成像显示双侧基底节区和脑干对称异常信号,脑干磁共振波谱扫描显示乳酸峰。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Combined oxidative phosphorylation deficiency type 7 caused by C12orf65 gene mutations: a case report and literature review].

Objectives: To investigate the clinical features and gene mutation characteristics of combined oxidative phosphorylation deficiency type 7 (COXPD7) caused by mutations in the C12orf65 gene, and to enhance the awareness of this disease.

Methods: A child diagnosed with COXPD7 in the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University in 2021 was included, along with 10 patients reported in the literature. All subjects were analyzed for their genotypes and clinical phenotypes.

Results: A total of 11 patients with COXPD7 were included, comprising 1 reported in this study and 10 from the literature. Among the 11 patients, 9 had homozygous mutations in the C12orf65 gene, while 2 had compound heterozygous mutations, which were identified as frameshift or nonsense mutations. The age of onset ranged from 1 day to 2 years, and clinical manifestations included optic nerve atrophy and delays in intellectual and motor development. Eight patients exhibited external ophthalmoplegia, and five patients displayed spastic paralysis. Cranial magnetic resonance imaging revealed optic nerve atrophy in all 11 patients, abnormal brainstem signals in 10 patients, and a lactate peak on brainstem magnetic resonance spectroscopy scans in 3 patients.

Conclusions: COXPD7 associated with the C12orf65 gene results from homozygous or compound heterozygous mutations, with primary clinical manifestations of optic nerve atrophy and delays in intellectual and motor development. Some patients may also present with spastic paralysis or external ophthalmoplegia. Cranial imaging reveals symmetrical abnormal signals in bilateral basal ganglia and brainstem, and a lactate peak is observed on brainstem magnetic resonance spectroscopy scans.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
中国当代儿科杂志
中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health
CiteScore
1.50
自引率
0.00%
发文量
5006
期刊介绍: The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R;ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信