{"id":1055,"date":"2017-11-09T19:59:45","date_gmt":"2017-11-09T19:59:45","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1055"},"modified":"2026-02-24T16:06:05","modified_gmt":"2026-02-24T16:06:05","slug":"new-bone-dysplasia-with-cloudy-cornea-and-intellectual-disability-caused-by-homozygous-plcb3-variants","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2017\/11\/09\/new-bone-dysplasia-with-cloudy-cornea-and-intellectual-disability-caused-by-homozygous-plcb3-variants\/","title":{"rendered":"New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants (Contributed by Sarah M. Robbins and Salma Ben-Salem)"},"content":{"rendered":"<p>Ben-Salem, Robbins et al. reports a new form of syndromic bone dysplasia in two Emirati first cousins. This new syndrome includes profound limb shortening with spine and pelvis abnormalities, corneal clouding, and intellectual disability. Homozygosity mapping in the family localized the genetic cause to cytogenetic band 11q12.1-q13.1. Whole exome sequencing identified a homozygous variant, c.2632G&gt;T,\u00a0 in PLCB3 as a strong candidate gene. The group confirmed the pathogenicity of this variant both by protein modelling and in transfected cells and patient fibroblasts, which both show disordered cytoskeletal organization and highly elevated levels of the lipid, PIP2, that is broken down by PLCB3. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/11\/09\/jmedgenet-2017-104827\">http:\/\/jmg.bmj.com\/content\/e<\/a><a style=\"background-color: #ffffff;font-size: 1rem\" href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/11\/09\/jmedgenet-2017-104827\">arly\/2017\/11\/09\/jmedgenet-2017-104827<\/a><span style=\"font-size: 1rem\">\u00a0)<\/span><\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/11\/Untitled.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1056\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/11\/Untitled-300x298.jpg\" alt=\"\" width=\"300\" height=\"298\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/11\/Untitled-300x298.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/11\/Untitled-150x150.jpg 150w, https:\/\/blogs.bmj.com\/jmg\/files\/2017\/11\/Untitled.jpg 738w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>&nbsp;<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ben-Salem, Robbins et al. reports a new form of syndromic bone dysplasia in two Emirati first cousins. This new syndrome includes profound limb shortening with spine and pelvis abnormalities, corneal clouding, and intellectual disability. Homozygosity mapping in the family localized the genetic cause to cytogenetic band 11q12.1-q13.1. Whole exome sequencing identified a homozygous variant, c.2632G&gt;T,\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2017\/11\/09\/new-bone-dysplasia-with-cloudy-cornea-and-intellectual-disability-caused-by-homozygous-plcb3-variants\/\">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-1055","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>New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants (Contributed by Sarah M. Robbins and Salma Ben-Salem) - 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\/2017\/11\/09\/new-bone-dysplasia-with-cloudy-cornea-and-intellectual-disability-caused-by-homozygous-plcb3-variants\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"New Bone Dysplasia with Cloudy Cornea and Intellectual Disability caused by homozygous PLCB3 variants (Contributed by Sarah M. Robbins and Salma Ben-Salem) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ben-Salem, Robbins et al. reports a new form of syndromic bone dysplasia in two Emirati first cousins. This new syndrome includes profound limb shortening with spine and pelvis abnormalities, corneal clouding, and intellectual disability. Homozygosity mapping in the family localized the genetic cause to cytogenetic band 11q12.1-q13.1. 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