Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond, Vaidutis Kučinskas
{"title":"与严重电荷综合征相关的CHD7基因的从头重复","authors":"Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond, Vaidutis Kučinskas","doi":"10.1177/1178631019839010","DOIUrl":null,"url":null,"abstract":"<p><p>CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in <i>CHD7</i> have been shown to cause CHARGE syndrome. Here, we report the identification of a novel <i>de novo</i> p.Asp2119_Pro2120ins6 duplication variant in a conserved region of <i>CHD7</i> in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.</p>","PeriodicalId":88494,"journal":{"name":"Genomics insights","volume":"12 ","pages":"1178631019839010"},"PeriodicalIF":0.0000,"publicationDate":"2019-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/1178631019839010","citationCount":"1","resultStr":"{\"title\":\"<i>De Novo</i> Duplication in the <i>CHD7</i> Gene Associated With Severe CHARGE Syndrome.\",\"authors\":\"Laura Pranckėnienė, Eglė Preikšaitienė, Lucie Gueneau, Alexandre Reymond, Vaidutis Kučinskas\",\"doi\":\"10.1177/1178631019839010\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in <i>CHD7</i> have been shown to cause CHARGE syndrome. Here, we report the identification of a novel <i>de novo</i> p.Asp2119_Pro2120ins6 duplication variant in a conserved region of <i>CHD7</i> in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.</p>\",\"PeriodicalId\":88494,\"journal\":{\"name\":\"Genomics insights\",\"volume\":\"12 \",\"pages\":\"1178631019839010\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2019-04-02\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1177/1178631019839010\",\"citationCount\":\"1\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genomics insights\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1177/1178631019839010\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2019/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genomics insights","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1177/1178631019839010","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2019/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
De Novo Duplication in the CHD7 Gene Associated With Severe CHARGE Syndrome.
CHARGE syndrome is an autosomal dominant developmental disorder associated with a constellation of traits involving almost every organ and sensory system, in particular congenital anomalies, including choanal atresia and malformations of the heart, inner ear, and retina. Variants in CHD7 have been shown to cause CHARGE syndrome. Here, we report the identification of a novel de novo p.Asp2119_Pro2120ins6 duplication variant in a conserved region of CHD7 in a severely affected boy presenting with 3 and 5 of the CHARGE cardinal major and minor signs, respectively, combined with congenital umbilical hernia, congenital hernia at the linea alba, mildly hypoplastic inferior vermis, slight dilatation of the lateral ventricles, prominent metopic ridge, and hypoglycemic episodes.