{"id":1065,"date":"2017-12-20T19:27:21","date_gmt":"2017-12-20T19:27:21","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=1065"},"modified":"2017-12-20T19:27:21","modified_gmt":"2017-12-20T19:27:21","slug":"cole-carpenter-syndrome-due-to-recurrent-p4hb-variant","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/12\/20\/cole-carpenter-syndrome-due-to-recurrent-p4hb-variant\/","title":{"rendered":"Cole-Carpenter syndrome due to recurrent P4HB variant"},"content":{"rendered":"<p>In 1987, Cole and Carpenter reported two infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe brittle bone disease. They were reported to have normal intelligence. This came to known as Cole-Carpenter syndrome (CCS). With advances in genetic screening, in 2015, these two patients were reported to have changes in <em>P4HB<\/em> gene, thus identifying the underlying cause of CCS. In this study, we describe another patient with CCS who carries the exact same change in <em>P4HB<\/em> gene and expand on the function of P4HB in collagen processing and radiological clues to the underlying diagnosis. (By Dr. Meena Balasubramanian, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/12\/19\/jmedgenet-2017-104899\">http:\/\/jmg.bmj.com\/content\/early\/2017\/12\/19\/jmedgenet-2017-104899<\/a> )<\/p>\n<p><a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1066\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo-201x300.jpg\" alt=\"\" width=\"201\" height=\"300\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo-201x300.jpg 201w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo-768x1149.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo-685x1024.jpg 685w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo-300x449.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/12\/P4HB-Paper-JMG-Blog-Photo.jpg 1595w\" sizes=\"auto, (max-width: 201px) 100vw, 201px\" \/><\/a><\/p>\n<p>Drs. Meena Balasubramanian and Nick Bishop, authors presenting their work at a speciality bone conference<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>In 1987, Cole and Carpenter reported two infants with multiple fractures and deformities of bone, with a skeletal phenotype similar to severe brittle bone disease. They were reported to have normal intelligence. This came to known as Cole-Carpenter syndrome (CCS). With advances in genetic screening, in 2015, these two patients were reported to have changes [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/12\/20\/cole-carpenter-syndrome-due-to-recurrent-p4hb-variant\/\">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-1065","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\/1065","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=1065"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1065\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1065"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1065"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1065"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}