【1例由NEB基因变异引起的杆状肌病的遗传分析】。

Weirong Zheng, Xiaoyan Peng, Yuqing Lei, Liwen Wang, Xinrui Wang, Qianqian Zhao
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引用次数: 0

摘要

目的:探讨小儿线状肌病(NM)的遗传病因。方法:选取2023年1月28日因“咽痰1个多月”就诊于福建省儿童医院的1例患儿作为研究对象。收集患儿的临床资料,并采集患儿及其父母的外周血样本。提取基因组DNA后进行三全外显子组测序(WES)。候选变异通过Sanger测序和生物信息学分析进行验证。本研究已获得福建省儿童医院医学伦理委员会批准(伦理号:2023ETKLRK2004)。结果:患者为一名2个月大的女性,表现为喉咙持续痰多,复发性重症肺炎,吞咽困难,肌张力下降。WES结果显示,患者携带NEB (NM_001271208.1)基因复合杂合变异体,即c.4611+2T>A和c.12961del (p.Ser4321ALafs*21),相关疾病为杆状肌病。桑格测序证实,这些变异分别遗传自她的母亲和父亲,他们都有正常的表型。根据美国医学遗传学和基因组学学院(ACMG)的指南,这两种变异被评为可能致病(PVS1_Moderate+ pm2_support +PM3;PVS1 + PM2_Supporting)。结论:c.4611+2T>A/c。NEB基因的12961del (p.Ser4321ALafs*21)复合杂合变异体可能是该儿童发病的基础。以上发现有助于诊断、遗传咨询和指导其家庭的生育决策。
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[Genetic analysis of a patient with Rod-shaped myopathy due to variants of NEB gene].

Objective: To explore the genetic etiology of a child with Nemaline myopathy (NM).

Methods: A child who had visited Fujian Children's Hospital on January 28, 2023 due to "phlegm in the throat for more than a month" was selected as the study subject. Clinical data of the child was collected, in addition with peripheral blood samples from her and her parents. Following extraction of genomic DNA, trio-whole exome sequencing (WES) was carried out. Candidate variants was verified by Sanger sequencing and bioinformatic analysis. This study has been approved by the Medical Ethics Committee of Fujian Children's Hospital (Ethic No. 2023ETKLRK2004).

Results: The patient, a 2-month-old female, had presented with persistent phlegm in the throat, recurrent severe pneumonia, swallowing difficulty, and decreased muscle tone. WES results revealed that she has harbored compound heterozygous variants of the NEB (NM_001271208.1) gene, namely c.4611+2T>A and c.12961del (p.Ser4321ALafs*21), and the associated disease is rod-like myopathy. Sanger sequencing confirms that the variants were respectively inherited from her mother and father, both of whom had normal phenotypes. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), both variants were rated as likely pathogenic (PVS1_Moderate+PM2_Supporting+PM3; PVS1+PM2_Supporting).

Conclusion: The c.4611+2T>A/c.12961del (p.Ser4321ALafs*21) compound heterozygous variants of the NEB gene probably underlay the pathogenesis in this child. Above findings has facilitated the diagnosis, genetic counseling, and guidance for reproductive decision of her family.

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来源期刊
中华医学遗传学杂志
中华医学遗传学杂志 Medicine-Medicine (all)
CiteScore
0.50
自引率
0.00%
发文量
9521
期刊介绍: Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.
期刊最新文献
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