{"id":1010,"date":"2017-08-05T18:21:21","date_gmt":"2017-08-05T18:21:21","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1010"},"modified":"2026-02-24T21:03:00","modified_gmt":"2026-02-24T21:03:00","slug":"a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/05\/a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct\/","title":{"rendered":"A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct (Contributed by Dr. Andrew J Griffith)"},"content":{"rendered":"<p>Two mutated copies of the SLC26A4 gene are associated with Pendred syndrome, comprised of bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) and thyroid goiter.\u00a0 Other EVA patients have a normal thyroid gland and only one mutated copy of SLC26A4.\u00a0 Our study identified the same combination, or haplotype, of noncoding sequence variants upstream of the non-mutated copy of SLC26A4 in most of these nonsydromic EVA patients.\u00a0 This haplotype defines the most common allele associated with hereditary hearing loss in Caucasians.\u00a0 Testing for this haplotype will facilitate the genetic and prognostic counseling of many patients with EVA. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/05\/jmedgenet-2017-104721\">http:\/\/jmg.bmj.com\/content\/early\/2017\/08\/05\/jmedgenet-2017-104721<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1011\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA-300x300.jpg\" alt=\"\" width=\"300\" height=\"300\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA-300x300.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA-150x150.jpg 150w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA-768x768.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA-1024x1024.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/08\/Chattaraj-CT-EVA.jpg 1200w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>(Source: <a href=\"https:\/\/www.nidcd.nih.gov\/health\/enlarged-vestibular-aqueducts-and-childhood-hearing-loss\">https:\/\/www.nidcd.nih.gov\/health\/enlarged-vestibular-aqueducts-and-childhood-hearing-loss <\/a>)<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Two mutated copies of the SLC26A4 gene are associated with Pendred syndrome, comprised of bilateral hearing loss with enlargement of the vestibular aqueduct (EVA) and thyroid goiter.\u00a0 Other EVA patients have a normal thyroid gland and only one mutated copy of SLC26A4.\u00a0 Our study identified the same combination, or haplotype, of noncoding sequence variants upstream [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/08\/05\/a-common-slc26a4-linked-haplotype-underlying-non-syndromic-hearing-loss-with-enlargement-of-the-vestibular-aqueduct\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1010","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - 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