{"id":490,"date":"2024-02-12T00:00:00","date_gmt":"2024-02-12T00:00:00","guid":{"rendered":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fgene.2024.1314535"},"modified":"2024-02-14T02:17:30","modified_gmt":"2024-02-14T02:17:30","slug":"spectrum-of-genetic-variants-in-bilateral-sensorineural-hearing-loss","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/02\/12\/spectrum-of-genetic-variants-in-bilateral-sensorineural-hearing-loss\/","title":{"rendered":"Spectrum of genetic variants in bilateral sensorineural hearing loss"},"content":{"rendered":"<p><bold>Background:<\/bold> Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified to date. The genetic diagnostic rate varies significantly depending on the population being tested. Countries with a considerably high rate of consanguinity provide a unique resource for studying rare forms of recessive HL. In this study, we identified genetic variants associated with bilateral sensorineural HL (SNHL) using whole-exome sequencing (WES) in 11 families residing in the United Arab Emirates (UAE).<\/p><p><bold>Results<\/bold>: We established the molecular diagnosis in six probands, with six different pathogenic or likely pathogenic variants in the genes <italic>MYO15A<\/italic>, <italic>SLC26A4<\/italic>, and <italic>GJB2<\/italic>. One novel nonsense variant, <italic>MYO15A<\/italic>:<italic>p<\/italic>.Tyr1962Ter*, was identified in a homozygous state in one family, which has not been reported in any public database. <italic>SLC26A4<\/italic> and <italic>GJB2<\/italic> were found to be the most frequently associated genes in this study. In addition, six variants of uncertain significance (VUS) were detected in five probands in the genes <italic>CDH23<\/italic>, <italic>COL11A1<\/italic>, <italic>ADGRV1<\/italic>, <italic>NLRP3<\/italic>, and <italic>GDF6<\/italic>. In total, 12 variants were observed in eight genes. Among these variants, eight missense variants (66.7%), three nonsense variants (25.0%), and one frameshift (8.3%) were identified. The overall diagnostic rate of this study was 54.5%. Approximately 45.5% of the patients in this study came from consanguineous families.<\/p><p><bold>Conclusion:<\/bold> Understanding the genetic basis of HL provides insight for the clinical diagnosis of hearing impairment cases through the utilization of next-generation sequencing (NGS). Our findings contribute to the knowledge of the heterogeneous genetic profile of HL, especially in a population with a high rate of consanguineous marriage in the Arab population.<\/p>","protected":false},"excerpt":{"rendered":"<p>Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified t&#8230;<\/p>\n","protected":false},"author":99,"featured_media":462,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,12,13],"tags":[61],"class_list":["post-490","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-articulos","category-enfermedades-raras","category-frontiers-in-genetics","tag-sordera"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/490","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/99"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=490"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/490\/revisions"}],"predecessor-version":[{"id":491,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/490\/revisions\/491"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media\/462"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=490"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=490"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=490"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}