Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara
{"title":"巴西患者FMR1基因突变与卵巢功能障碍之间的关系","authors":"Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara","doi":"10.5935/1518-0557.20210063","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).</p><p><strong>Methods: </strong>This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.</p><p><strong>Results: </strong>A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.</p><p><strong>Conclusions: </strong>In our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.</p>","PeriodicalId":520656,"journal":{"name":"JBRA assisted reproduction","volume":" ","pages":"237-240"},"PeriodicalIF":1.9000,"publicationDate":"2022-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118958/pdf/","citationCount":"3","resultStr":"{\"title\":\"Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.\",\"authors\":\"Cinthia Ramos, Maristela Ocampos, Ingrid Tremel Barbato, Viviane Margareth Scantamburlo Niehues, Maria da Graça Bicalho, Renato Nisihara\",\"doi\":\"10.5935/1518-0557.20210063\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).</p><p><strong>Methods: </strong>This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.</p><p><strong>Results: </strong>A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.</p><p><strong>Conclusions: </strong>In our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.</p>\",\"PeriodicalId\":520656,\"journal\":{\"name\":\"JBRA assisted reproduction\",\"volume\":\" \",\"pages\":\"237-240\"},\"PeriodicalIF\":1.9000,\"publicationDate\":\"2022-04-17\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9118958/pdf/\",\"citationCount\":\"3\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"JBRA assisted reproduction\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5935/1518-0557.20210063\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"JBRA assisted reproduction","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5935/1518-0557.20210063","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Association between mutations in the FMR1 gene and ovarian dysfunction in Brazilian patients.
Objective: Our study aimed to identify mutations in the FMR1 gene in a group of Brazilian women diagnosed with primary ovarian insufficiency (POI).
Methods: This cross-sectional study included patients aged under 40 years with confirmed POI from a convenience sample of patients seen from June 2017 to December 2018 at a University Hospital in Curitiba, Brazil. Genomic DNA was extracted and analyzed using FragilEase(tm) PCR kits (PerkinElmer), a commercially available test that enables the quantification of CGG trinucleotide repeat expansions in the FMR1 gene.
Results: A total of 52 patients with an average age of 35.8±3.97 years were included. Fifty (96.1%) had normal alleles with 18 to 43 CGG repeats. The most frequent CGG-repeat sizes were 28 and 30. Two patients (3.8%) presented mutations in the FMR1 gene. The first had alleles with 19/97 CGG repeats, was categorized as a premutation carrier for FXS, and had a son with cognitive impairment. The second had alleles with 21/45 CGG repeats and was described as belonging to the gray zone.
Conclusions: In our study, 3.8% of the females with POI had mutations in the FMR1 gene. The most frequent allele sizes were 28 and 30 CGG repeats.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
