{"id":966,"date":"2016-12-28T21:05:09","date_gmt":"2016-12-28T21:05:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=966"},"modified":"2026-02-24T21:12:17","modified_gmt":"2026-02-24T21:12:17","slug":"compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/12\/28\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\/","title":{"rendered":"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET)"},"content":{"rendered":"<p>Hereditary optic neuropathies (HON) are blinding conditions that affect the optic nerve which connects the eye to the brain. Mitochondrial (mt) and nuclear DNA mutations can cause HON. mtDNA mutations in complex I subunits of the respiratory chain cause a bilateral, painless, subacute disease known as Leber HON (LHON). Here, we report for the first time a LHON-like phenotype associated with a nuclear gene, NDUFS2. Consistent with the pathomechanism of LHON, NDUFS2 is required for the assembly of Complex I. Severe NDUFS2 mutations were previously reported to cause Leigh syndrome. Our results suggest milder mutations can cause isolated HON. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2016\/12\/28\/jmedgenet-2016-104212\">http:\/\/jmg.bmj.com\/content\/early\/2016\/12\/28\/jmedgenet-2016-104212<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hereditary optic neuropathies (HON) are blinding conditions that affect the optic nerve which connects the eye to the brain. Mitochondrial (mt) and nuclear DNA mutations can cause HON. mtDNA mutations in complex I subunits of the respiratory chain cause a bilateral, painless, subacute disease known as Leber HON (LHON). Here, we report for the first [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2016\/12\/28\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\/\">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-966","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET) - 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\/2016\/12\/28\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Hereditary optic neuropathies (HON) are blinding conditions that affect the optic nerve which connects the eye to the brain. Mitochondrial (mt) and nuclear DNA mutations can cause HON. mtDNA mutations in complex I subunits of the respiratory chain cause a bilateral, painless, subacute disease known as Leber HON (LHON). Here, we report for the first [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/12\/28\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-12-28T21:05:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T21:12:17+00:00\" \/>\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\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET)\",\"datePublished\":\"2016-12-28T21:05:09+00:00\",\"dateModified\":\"2026-02-24T21:12:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/\"},\"wordCount\":125,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/12\\\/28\\\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\\\/\",\"name\":\"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET) - 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2016\/12\/28\/compound-heterozygosity-for-severe-and-hypomorphic-ndufs2-mutations-cause-non-syndromic-lhon-like-optic-neuropathy\/","og_locale":"en_US","og_type":"article","og_title":"Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy (Contributed by Dr. Jean-Michel ROZET) - JMG Contact blog","og_description":"Hereditary optic neuropathies (HON) are blinding conditions that affect the optic nerve which connects the eye to the brain. 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