Lyndon G Rosser, Shane McKee, David S Millar, Hayley Archer, James Hughes, Rachel Butler, Nadia Chuzhanova, David N Cooper, Lazarus P Lazarou
{"title":"两个姐妹患有Rett综合征和来自父本的MECP2基因微缺失。","authors":"Lyndon G Rosser, Shane McKee, David S Millar, Hayley Archer, James Hughes, Rachel Butler, Nadia Chuzhanova, David N Cooper, Lazarus P Lazarou","doi":"10.1007/s11568-008-9026-9","DOIUrl":null,"url":null,"abstract":"<p><p>The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.</p>","PeriodicalId":87975,"journal":{"name":"Genomic medicine","volume":null,"pages":null},"PeriodicalIF":3.5000,"publicationDate":"2008-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1007/s11568-008-9026-9","citationCount":"5","resultStr":"{\"title\":\"Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.\",\"authors\":\"Lyndon G Rosser, Shane McKee, David S Millar, Hayley Archer, James Hughes, Rachel Butler, Nadia Chuzhanova, David N Cooper, Lazarus P Lazarou\",\"doi\":\"10.1007/s11568-008-9026-9\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.</p>\",\"PeriodicalId\":87975,\"journal\":{\"name\":\"Genomic medicine\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2008-12-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1007/s11568-008-9026-9\",\"citationCount\":\"5\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genomic medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1007/s11568-008-9026-9\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2008/9/20 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q1\",\"JCRName\":\"EDUCATION & EDUCATIONAL RESEARCH\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genomic medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1007/s11568-008-9026-9","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2008/9/20 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"EDUCATION & EDUCATIONAL RESEARCH","Score":null,"Total":0}
Two sisters with Rett syndrome and non-identical paternally-derived microdeletions in the MECP2 gene.
The unique case of two sisters with symptoms of RTT and two quite distinct, novel, and apparently de novo microdeletions of the MECP2 gene is described. One sister possessed an 18 base-pair (bp) deletion (c.1155_1172del18) within the deletion hotspot region of exon 4, whereas the other sister exhibited a 43 bp deletion at a different location in the same exon (c.1448_1461del14+29). Although these lesions occurred on the same paternally-derived X chromosome, this is probably due to chance co-occurrence owing to the relatively high mutation rate of the MECP2 gene rather than to a constitutional mutator phenotype.
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