{"id":757,"date":"2015-05-18T18:52:47","date_gmt":"2015-05-18T18:52:47","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=757"},"modified":"2026-02-25T01:06:41","modified_gmt":"2026-02-25T01:06:41","slug":"mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder","status":"publish","type":"post","link":"https:\/\/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 (Contributed by Dr. Qiuju Wang)"},"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(<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:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/group.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-758\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/group-300x200.jpg\" alt=\"group\" width=\"300\" height=\"200\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/group-300x200.jpg 300w, https:\/\/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:\/\/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":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-757","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (Contributed by Dr. Qiuju Wang) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2015\/05\/18\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (Contributed by Dr. Qiuju Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"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% [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2015\/05\/18\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2015-05-18T18:52:47+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T01:06:41+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2015\/05\/group-1024x683.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"683\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (Contributed by Dr. Qiuju Wang)\",\"datePublished\":\"2015-05-18T18:52:47+00:00\",\"dateModified\":\"2026-02-25T01:06:41+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/\"},\"wordCount\":168,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2015\\\/05\\\/group-300x200.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2015\\\/05\\\/18\\\/mutations-in-apoptosis-inducing-factor-cause-x-linked-recessive-auditory-neuropathy-spectrum-disorder\\\/\",\"name\":\"Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder (Contributed by Dr. Qiuju Wang) - 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