{"id":534,"date":"2013-05-18T06:18:06","date_gmt":"2013-05-18T06:18:06","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=534"},"modified":"2026-02-25T20:11:21","modified_gmt":"2026-02-25T20:11:21","slug":"disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\/","title":{"rendered":"Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (Contributed by Fadi F. Hamdan, PhD)"},"content":{"rendered":"<p>Mutations in <i>TSC1<\/i> or <i>TSC2<\/i> cause Tuberous Sclerosis Complex (TSC) a multisystemic disorder with many features including intellectual disability (ID). TSC1, TSC2 and TBC1D7 form a complex that inhibits mTORC1 signaling and limits cell growth. Using\u00a0homozygosity mapping and exome sequencing to study a consanguineous family with ID and megalencephaly, we identified, in the affected individuals, a homozygous truncating mutation in <i>TBC1D7<\/i>. This mutation (p.Y180fsX1) abolishes TBC1D7 expression and is associated with increased mTORC1 signaling in cells of the affected individuals. Our study shows that disruption of TBC1D7 causes ID but without the other typical features found in TSC. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/16\/jmedgenet-2013-101680\">http:\/\/jmg.bmj.com\/content\/early\/2013\/05\/16\/jmedgenet-2013-101680<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Mutations in TSC1 or TSC2 cause Tuberous Sclerosis Complex (TSC) a multisystemic disorder with many features including intellectual disability (ID). TSC1, TSC2 and TBC1D7 form a complex that inhibits mTORC1 signaling and limits cell growth. Using\u00a0homozygosity mapping and exome sequencing to study a consanguineous family with ID and megalencephaly, we identified, in the affected individuals, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\/\">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-534","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>Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (Contributed by Fadi F. Hamdan, PhD) - 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\/2013\/05\/18\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (Contributed by Fadi F. Hamdan, PhD) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Mutations in TSC1 or TSC2 cause Tuberous Sclerosis Complex (TSC) a multisystemic disorder with many features including intellectual disability (ID). TSC1, TSC2 and TBC1D7 form a complex that inhibits mTORC1 signaling and limits cell growth. Using\u00a0homozygosity mapping and exome sequencing to study a consanguineous family with ID and megalencephaly, we identified, in the affected individuals, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2013\/05\/18\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2013-05-18T06:18:06+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:11:21+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\\\/2013\\\/05\\\/18\\\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2013\\\/05\\\/18\\\/disruption-of-tbc1d7-a-subunit-of-the-tsc1-tsc2-protein-complex-in-intellectual-disability-and-megalencephaly\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly (Contributed by Fadi F. 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