{"title":"[两名 TANC2 基因变异儿童的临床和遗传分析及文献综述]。","authors":"Manman Chu, Dan Xu, Jiayang Xie, Xiaoli Zhang, Mengyue Wang, Jialin Li, Yichao Ma, Xiaoli Li, Junling Wang, Tianming Jia","doi":"10.3760/cma.j.cn511374-20240313-00171","DOIUrl":null,"url":null,"abstract":"<p><strong>Objetive: </strong>To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene.</p><p><strong>Methods: </strong>Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using \"TANC2 gene\", \"Neurodevelopmental disorders\", \"Nervous system development disorders\", \"TANC2\" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57).</p><p><strong>Results: </strong>Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c.3398G>A (p.Gly1133Glu) and c.2829+1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+PM2_Supporting+PP3) and the latter was rated as pathogenic (PVS1+PS2+PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17) , intellectual disability (94.1%,16/17) , language and motor retardation (88.2%, 15/17；58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities.</p><p><strong>Conclusion: </strong>Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"41 10","pages":"1195-1200"},"PeriodicalIF":0.0000,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review].\",\"authors\":\"Manman Chu, Dan Xu, Jiayang Xie, Xiaoli Zhang, Mengyue Wang, Jialin Li, Yichao Ma, Xiaoli Li, Junling Wang, Tianming Jia\",\"doi\":\"10.3760/cma.j.cn511374-20240313-00171\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objetive: </strong>To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene.</p><p><strong>Methods: </strong>Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using \\\"TANC2 gene\\\", \\\"Neurodevelopmental disorders\\\", \\\"Nervous system development disorders\\\", \\\"TANC2\\\" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57).</p><p><strong>Results: </strong>Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c.3398G>A (p.Gly1133Glu) and c.2829+1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+PM2_Supporting+PP3) and the latter was rated as pathogenic (PVS1+PS2+PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17) , intellectual disability (94.1%,16/17) , language and motor retardation (88.2%, 15/17；58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities.</p><p><strong>Conclusion: </strong>Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.</p>\",\"PeriodicalId\":39319,\"journal\":{\"name\":\"中华医学遗传学杂志\",\"volume\":\"41 10\",\"pages\":\"1195-1200\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-10-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中华医学遗传学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.3760/cma.j.cn511374-20240313-00171\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华医学遗传学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn511374-20240313-00171","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Clinical and genetic analysis of two children with TANC2 gene variants and a literature review].
Objetive: To explore the clinical and genetic characteristics of two children with Neurodevelopmental disorders (NDDs) due to variants of TANC2 gene.
Methods: Clinical data of two children who were admitted to the Third Affiliated Hospital of Zhengzhou University respectively in April 2020 and April 2021 were retrospectively analyzed. Peripheral blood samples of the children and their parents were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing. By using "TANC2 gene", "Neurodevelopmental disorders", "Nervous system development disorders", "TANC2" as the key words, similar cases were searched from the CNKI, Wanfang database platform and PubMed database, with the search time set as from the establishment of the database to December 2023. This study was approved by the Third Affiliated Hospital of Zhengzhou University (Ethics No. 2020-57).
Results: Case 1 was a 1-year-and-3-month-old girl who had developed convulsions at 1 year old and had three episodes of seizures. Her epilepsy had resolved with the treatment of oxcarbazepine, which was stopped at the age of 2-year-and-7-month. Her language, movement and intelligence development were all normal. Case 2 was a 1-year-and-10-month-old boy, who had developed convulsions at 1 year old. His seizure type was myoclonus, and the frequency was dozens of times a day. His epilepsy had resolved with the treatment of sodium valproate. His language, movement and intelligence development was delayed for about half a year. Genetic analysis showed that both children had harbored novel variants of the TANC2 gene (NM_025185.4), including c.3398G>A (p.Gly1133Glu) and c.2829+1G>A, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the former was rated as likely pathogenic (PS2+PM2_Supporting+PP3) and the latter was rated as pathogenic (PVS1+PS2+PM2_Supporting). Two previous reports were retrieved, which had involved 17 cases and 16 variants. Common features had included autism spectrum disorder (70.6%, 12/17) , intellectual disability (94.1%,16/17) , language and motor retardation (88.2%, 15/17；58.8%, 10/17), facial dysmorphism, epilepsy, ataxia, and thoracic and spinal deformities.
Conclusion: Variants of the TANC2 gene probably underlay the epilepsy and development delay in these children with NDDs.
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.
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