{"title":"NTNG2突变:具有早期神经精神表现的新型脑皮肤疾病的候选基因?一个基于3000个病人的分析","authors":"Akif Ayaz, B. Yulug","doi":"10.30565/medalanya.1086508","DOIUrl":null,"url":null,"abstract":"Aim: In this study, the relationship between genetic analysis and exome sequencing and clinical and neuroimaging findings of four patients from the same family was investigated by analyzing a clinical and genetic (WES) database containing more than 3000 patients. Methods: We analyzed the WES data of approximately 3000 patients performed in our center in terms of NTNG2 biallelic mutations. In addition, MR imaging findings were investigated. Results: We found four patients with the same mutation in the NTNG2 gene, presenting with similar clinical and neuroimaging findings. As a result of filtering, the c242G>A variant was determined in the NTNG2 gene. In addition, mild to severe brain parenchymal volume loss and frontal and temporal lobe atrophy were seen in cases 1, 2, and 4 on axial T2-weighted MRI. c. Conclusion: The current study has similar phenotypic and genotypic features and is a very rare report showing NTNG2 mutation in this context. Existing clinical data are important in choosing NTNG2 gene-related neuropsychiatric disorders as a future treatment target.","PeriodicalId":7003,"journal":{"name":"Acta Medica Alanya","volume":"27 1","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2022-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients\",\"authors\":\"Akif Ayaz, B. Yulug\",\"doi\":\"10.30565/medalanya.1086508\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Aim: In this study, the relationship between genetic analysis and exome sequencing and clinical and neuroimaging findings of four patients from the same family was investigated by analyzing a clinical and genetic (WES) database containing more than 3000 patients. Methods: We analyzed the WES data of approximately 3000 patients performed in our center in terms of NTNG2 biallelic mutations. In addition, MR imaging findings were investigated. Results: We found four patients with the same mutation in the NTNG2 gene, presenting with similar clinical and neuroimaging findings. As a result of filtering, the c242G>A variant was determined in the NTNG2 gene. In addition, mild to severe brain parenchymal volume loss and frontal and temporal lobe atrophy were seen in cases 1, 2, and 4 on axial T2-weighted MRI. c. Conclusion: The current study has similar phenotypic and genotypic features and is a very rare report showing NTNG2 mutation in this context. Existing clinical data are important in choosing NTNG2 gene-related neuropsychiatric disorders as a future treatment target.\",\"PeriodicalId\":7003,\"journal\":{\"name\":\"Acta Medica Alanya\",\"volume\":\"27 1\",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2022-03-14\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Acta Medica Alanya\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.30565/medalanya.1086508\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Acta Medica Alanya","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.30565/medalanya.1086508","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
NTNG2 Mutation: A candidate gene for a new brain-skin disorder with early neuropsychiatric manifestation? An analysis based on 3000 patients
Aim: In this study, the relationship between genetic analysis and exome sequencing and clinical and neuroimaging findings of four patients from the same family was investigated by analyzing a clinical and genetic (WES) database containing more than 3000 patients. Methods: We analyzed the WES data of approximately 3000 patients performed in our center in terms of NTNG2 biallelic mutations. In addition, MR imaging findings were investigated. Results: We found four patients with the same mutation in the NTNG2 gene, presenting with similar clinical and neuroimaging findings. As a result of filtering, the c242G>A variant was determined in the NTNG2 gene. In addition, mild to severe brain parenchymal volume loss and frontal and temporal lobe atrophy were seen in cases 1, 2, and 4 on axial T2-weighted MRI. c. Conclusion: The current study has similar phenotypic and genotypic features and is a very rare report showing NTNG2 mutation in this context. Existing clinical data are important in choosing NTNG2 gene-related neuropsychiatric disorders as a future treatment target.