{"id":706,"date":"2014-12-05T22:26:20","date_gmt":"2014-12-05T22:26:20","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=706"},"modified":"2014-12-05T22:26:20","modified_gmt":"2014-12-05T22:26:20","slug":"neuropathy-target-esterase-impairments-cause-oliver-mcfarlane-and-laurence-moon-syndromes","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/12\/05\/neuropathy-target-esterase-impairments-cause-oliver-mcfarlane-and-laurence-moon-syndromes\/","title":{"rendered":"Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes"},"content":{"rendered":"<p>Here, we identified recessive mutations in the <em>PNPLA6<\/em> gene, encoding Neuropathy Target Esterase (NTE) protein, responsible for Oliver-McFarlane and Laurence-Moon syndromes in humans. Our finding expands the spectrum of <em>PNPLA6<\/em>-associated diseases to include hair abnormalities and pituitary atrophy, which can lead to intellectual disability and short stature. We further link the mechanisms among other <em>PNPLA6<\/em>-associated diseases, including Spastic Paraplegia Type 39, by surveying normal human embryonic expression in eye, pituitary and brain, and by analyzing the effects of <em>PNPLA6<\/em> mutations on NTE function both in zebrafish and patient cells. Our results suggest that the common cause of these disorders is NTE loss-of-function, and that the extent of remaining NTE function may help define the course of disease. (By Drs. Robert Hufnagel and Zubair M. Ahmed, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2014\/12\/05\/jmedgenet-2014-102856\">http:\/\/jmg.bmj.com\/content\/early\/2014\/12\/05\/jmedgenet-2014-102856<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Here, we identified recessive mutations in the PNPLA6 gene, encoding Neuropathy Target Esterase (NTE) protein, responsible for Oliver-McFarlane and Laurence-Moon syndromes in humans. Our finding expands the spectrum of PNPLA6-associated diseases to include hair abnormalities and pituitary atrophy, which can lead to intellectual disability and short stature. We further link the mechanisms among other PNPLA6-associated [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2014\/12\/05\/neuropathy-target-esterase-impairments-cause-oliver-mcfarlane-and-laurence-moon-syndromes\/\">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-706","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\/706","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=706"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/706\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=706"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=706"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=706"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}