{"id":902,"date":"2024-08-02T09:32:35","date_gmt":"2024-08-02T09:32:35","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=b476b8a0a6601fcb05d896e28cf3ef4b"},"modified":"2024-08-02T09:32:35","modified_gmt":"2024-08-02T09:32:35","slug":"first-report-of-an-ivorian-family-with-nonsyndromic-hearing-loss-caused-by-gjb2-compound-heterozygous-variants","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2024\/08\/02\/first-report-of-an-ivorian-family-with-nonsyndromic-hearing-loss-caused-by-gjb2-compound-heterozygous-variants\/","title":{"rendered":"First report of an Ivorian family with nonsyndromic hearing loss caused by GJB2 compound heterozygous variants"},"content":{"rendered":"\n<h2>Abstract<\/h2>\n<p>The primary etiology of congenital hearing loss is attributed to genetic factors, with <i>GJB2<\/i> identified as a pivotal gene across diverse ethnic groups. Additionally, nonsyndromic hearing loss is predominantly inherited in an autosomal recessive manner. We used Sanger sequencing to analyze <i>GJB2<\/i> in 17 deaf children from 13 unrelated Ivory Coast families. One family had two children born with severe congenital deafness and exhibited pathogenic compound heterozygous variants. These variants included a nonsense substitution (c.132G\u00a0&gt;\u00a0A or p.Trp44Ter) and a newly discovered duplication of 7 base pairs (c.205_211dupTTCCCCA or p.Ser72ProfsTer32). Segregation testing confirmed these variants, marking the first identification of <i>GJB2<\/i> in an Ivorian family with congenital hearing loss.<\/p>","protected":false},"excerpt":{"rendered":"<p>Annals of Human Genetics, EarlyView.<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[60,6,46],"tags":[43],"class_list":["post-902","post","type-post","status-publish","format-standard","hentry","category-annals-of-human-genetics","category-articulos","category-short-communication","tag-annhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/902","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"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=902"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/902\/revisions"}],"predecessor-version":[{"id":903,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/902\/revisions\/903"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=902"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=902"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=902"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}