{"id":543,"date":"2013-06-07T18:35:07","date_gmt":"2013-06-07T18:35:07","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=543"},"modified":"2013-06-07T18:35:07","modified_gmt":"2013-06-07T18:35:07","slug":"a-de-novo-x8-translocation-creates-a-ptk2-thoc2-gene-fusion-with-thoc2-expression-knockdown-in-a-patient-with-psychomotor-retardation-and-congenital-cerebellar-hypoplasia","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2013\/06\/07\/a-de-novo-x8-translocation-creates-a-ptk2-thoc2-gene-fusion-with-thoc2-expression-knockdown-in-a-patient-with-psychomotor-retardation-and-congenital-cerebellar-hypoplasia\/","title":{"rendered":"A de novo X;8 translocation creates a PTK2-THOC2 gene fusion with THOC2 expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia"},"content":{"rendered":"<p>Non-progressive cerebellar hypoplasias are rare developmental disorders leading to movement incoordination and intellectual disability. In an affected eight year-old girl, we identified an exchange between chromosomes X and 8 (translocation X;8). The Protein Tyrosine Kinase 2 (<i>PTK2<\/i>) and THO complex 2 (<i>THOC2<\/i>) gene structure was altered and both proteins were reduced to at least half dose. We studied <i>THOC2<\/i> reduction in cellular and an animal model (<i>C. elegans<\/i>), and propose that it<i> <\/i>can play key roles in neuron development, and possibly in combination with <i>PTK2<\/i> decrease, may affect normal neural network formation, leading to cognitive impairment and cerebellar congenital hypoplasia. (By Dr. Alfredo Brusco, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/06\/jmedgenet-2013-101542\">http:\/\/jmg.bmj.com\/content\/early\/2013\/06\/06\/jmedgenet-2013-101542<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Non-progressive cerebellar hypoplasias are rare developmental disorders leading to movement incoordination and intellectual disability. In an affected eight year-old girl, we identified an exchange between chromosomes X and 8 (translocation X;8). The Protein Tyrosine Kinase 2 (PTK2) and THO complex 2 (THOC2) gene structure was altered and both proteins were reduced to at least half [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2013\/06\/07\/a-de-novo-x8-translocation-creates-a-ptk2-thoc2-gene-fusion-with-thoc2-expression-knockdown-in-a-patient-with-psychomotor-retardation-and-congenital-cerebellar-hypoplasia\/\">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-543","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/543","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=543"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/543\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=543"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=543"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=543"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}