{"title":"伊朗患者 NF1 基因突变综述","authors":"Shahram Savad, Mohammad-Hossein Modarressi, Sarang Younesi, Mahnaz Seifi-Alan, Niusha Samadaian, Mona Masoomy, Mehdi Dianatpour, Shima Norouzi, Saloomeh Amidi, Amirreza Boroumand, Mahmoud Reza Ashrafi, Alireza Ronagh, Maryam Eslami, Maryam Hashemnejad, Shahab Nourian, Sanaz Mohammadi, Mohammad Mahdi Taheri Amin, Morteza Heidari, Mahin Seifi-Alan, Hossein Shojaaldini Ardakani, Fatemeh Aghamahdi, Sheyda Khalilian, Soudeh Ghafouri-Fard","doi":"10.1007/s12017-024-08790-5","DOIUrl":null,"url":null,"abstract":"<p><p>Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.</p>","PeriodicalId":3,"journal":{"name":"ACS Applied Electronic Materials","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"A Comprehensive Overview of NF1 Mutations in Iranian Patients.\",\"authors\":\"Shahram Savad, Mohammad-Hossein Modarressi, Sarang Younesi, Mahnaz Seifi-Alan, Niusha Samadaian, Mona Masoomy, Mehdi Dianatpour, Shima Norouzi, Saloomeh Amidi, Amirreza Boroumand, Mahmoud Reza Ashrafi, Alireza Ronagh, Maryam Eslami, Maryam Hashemnejad, Shahab Nourian, Sanaz Mohammadi, Mohammad Mahdi Taheri Amin, Morteza Heidari, Mahin Seifi-Alan, Hossein Shojaaldini Ardakani, Fatemeh Aghamahdi, Sheyda Khalilian, Soudeh Ghafouri-Fard\",\"doi\":\"10.1007/s12017-024-08790-5\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.</p>\",\"PeriodicalId\":3,\"journal\":{\"name\":\"ACS Applied Electronic Materials\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2024-07-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"ACS Applied Electronic Materials\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s12017-024-08790-5\",\"RegionNum\":3,\"RegionCategory\":\"材料科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"ENGINEERING, ELECTRICAL & ELECTRONIC\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"ACS Applied Electronic Materials","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s12017-024-08790-5","RegionNum":3,"RegionCategory":"材料科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ENGINEERING, ELECTRICAL & ELECTRONIC","Score":null,"Total":0}
A Comprehensive Overview of NF1 Mutations in Iranian Patients.
Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations in the NF1 gene. This disorder shows nearly complete penetrance and high phenotypic variability. We used the whole-exome sequencing technique to identify mutations in 32 NF1 cases from 22 Iranian families. A total of 31 variants, including 30 point mutations and one large deletion, were detected. In eight cases, variants were inherited, while they were sporadic in the remaining. Seven novel variants, including c.5576 T > G, c.6658_6659insC, c.2322dupT, c.92_93insAA, c.4360C > T, c.3814C > T, and c.4565_4566delinsC, were identified. The current study is the largest in terms of the sample size of Iranian NF1 cases with identified mutations. The results can broaden the spectrum of NF1 mutations and facilitate the process of genetic counseling in the affected families.
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