{"title":"一种新的无义和错义CEACAM16变体的特殊复合杂合基因型导致的非综合征性耳聋","authors":"Enrique Nogueira, Beatriz delOlmo","doi":"10.47363/jnrrr/2023(5)180","DOIUrl":null,"url":null,"abstract":"A peculiar compound heterozygous genotype of gene CEACAM16 associated to non-syndromic hearing loss (NSHL) is reported, of two novel variants of terminal IgV-like domain N2 domain of CEACAM16, different in nature, nonsense p.Trp370Ter and missense p.Ala375Thr, that would have a pathogenic effect (hearing loss) by impairing the interaction of CEACAM16 with other prominent glycoproteins, mainly with TECTA and TECTB, introducing structural changes in the tectorial membrane (TM) of the organ of Corti.","PeriodicalId":309719,"journal":{"name":"Journal of Neurology Research Reviews & Reports","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2023-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Nonsyndromic Deafness Due to A Peculiar Compound Heterozygous Genotype of Novel Nonsense and Missense CEACAM16 Variants\",\"authors\":\"Enrique Nogueira, Beatriz delOlmo\",\"doi\":\"10.47363/jnrrr/2023(5)180\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"A peculiar compound heterozygous genotype of gene CEACAM16 associated to non-syndromic hearing loss (NSHL) is reported, of two novel variants of terminal IgV-like domain N2 domain of CEACAM16, different in nature, nonsense p.Trp370Ter and missense p.Ala375Thr, that would have a pathogenic effect (hearing loss) by impairing the interaction of CEACAM16 with other prominent glycoproteins, mainly with TECTA and TECTB, introducing structural changes in the tectorial membrane (TM) of the organ of Corti.\",\"PeriodicalId\":309719,\"journal\":{\"name\":\"Journal of Neurology Research Reviews & Reports\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-07-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurology Research Reviews & Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.47363/jnrrr/2023(5)180\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurology Research Reviews & Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.47363/jnrrr/2023(5)180","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Nonsyndromic Deafness Due to A Peculiar Compound Heterozygous Genotype of Novel Nonsense and Missense CEACAM16 Variants
A peculiar compound heterozygous genotype of gene CEACAM16 associated to non-syndromic hearing loss (NSHL) is reported, of two novel variants of terminal IgV-like domain N2 domain of CEACAM16, different in nature, nonsense p.Trp370Ter and missense p.Ala375Thr, that would have a pathogenic effect (hearing loss) by impairing the interaction of CEACAM16 with other prominent glycoproteins, mainly with TECTA and TECTB, introducing structural changes in the tectorial membrane (TM) of the organ of Corti.
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