{"id":757,"date":"2015-05-18T18:52:47","date_gmt":"2015-05-18T18:52:47","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=757"},"modified":"2015-05-18T18:52:47","modified_gmt":"2015-05-18T18:52:47","slug":"mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/05\/18\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\/","title":{"rendered":"Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder"},"content":{"rendered":"<p>Auditory neuropathy spectrum disorder (ANSD) is a type of hearing loss in which transmission of auditory signals from the inner ear to the brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. Although its prevalence is high \u2013 ANSD has an incidence of 13% in children with severe-to-profound hearing loss \u2013 in many cases, the molecular pathology remains unclear.\u00a0 Underlying etiologies include toxic\/metabolic derangements, infections, immunological causes, drugs and genetic abnormalities, with 40% of ANSD having a genetic basis.\u00a0 \u00a0We now implicate mutation of AIFM1 as a common cause of familial and sporadic ANSD in male, often occured at adolescence.\u00a0 Our finding of cochlear nerve hypoplasia in some patients implies that magnetic resonance imaging may be of value in localizing the site of lesion and suggests that cochlea implantation in these patients may be chosen carefully.\u00a0\u00a0(By Dr. Qiuju Wang\u00a0, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/05\/17\/jmedgenet-2014-102961\">http:\/\/jmg.bmj.com\/content\/early\/2015\/05\/17\/jmedgenet-2014-102961<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/05\/group.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-758\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/05\/group-300x200.jpg\" alt=\"group\" width=\"300\" height=\"200\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/05\/group-300x200.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2015\/05\/group-1024x683.jpg 1024w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Auditory neuropathy spectrum disorder (ANSD) is a type of hearing loss in which transmission of auditory signals from the inner ear to the brain stem is distorted, giving rise to speech perception difficulties beyond that expected for the observed degree of hearing loss. Although its prevalence is high \u2013 ANSD has an incidence of 13% [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/05\/18\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-757","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/757","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=757"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/757\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=757"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=757"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=757"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}