{"id":868,"date":"2016-03-14T19:09:09","date_gmt":"2016-03-14T19:09:09","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=868"},"modified":"2026-02-25T00:15:29","modified_gmt":"2026-02-25T00:15:29","slug":"clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/","title":{"rendered":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)"},"content":{"rendered":"

Congenital Insensitivity to Pain (CIP) is a very rare condition.<\/p>\n

Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12.<\/p>\n

 <\/p>\n

The features of people with PRDM12 CIP were only briefly mentioned in the original paper. So, we set out to better describe the condition, how to make the diagnosis, and to suggest guidelines for management. We described the clinical features and natural history of five adults with PRDM12-CIP after seeing these people, taking a history and examination and then letter also administering a detailed questionnaire.<\/p>\n

 <\/p>\n

Our findings show that PRDM12-CIP has a number of key clinical features that allow it to be distinguished from other forms of CIP. Based on our findings we suggest management, over a patient’s lifetime, to prevent the serious complications of PRDM12-CIP such as corneal damage, severe infections, bone, and joint injuries. (http:\/\/jmg.bmj.com\/content\/early\/2016\/03\/14\/jmedgenet-2015-103646<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

Congenital Insensitivity to Pain (CIP) is a very rare condition. Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12.   The features of people with PRDM12 […]<\/p>\n

Read More…<\/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-868","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nClinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - 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\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Congenital Insensitivity to Pain (CIP) is a very rare condition. Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12.   The features of people with PRDM12 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2016-03-14T19:09:09+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T00:15:29+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\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)\",\"datePublished\":\"2016-03-14T19:09:09+00:00\",\"dateModified\":\"2026-02-25T00:15:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/\"},\"wordCount\":202,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/\",\"name\":\"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2016-03-14T19:09:09+00:00\",\"dateModified\":\"2026-02-25T00:15:29+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2016\\\/03\\\/14\\\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/","og_locale":"en_US","og_type":"article","og_title":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - JMG Contact blog","og_description":"Congenital Insensitivity to Pain (CIP) is a very rare condition. Affected people are entirely unable to feel pain. This is usually caused by faults in a handful of genes; genes that are normally involved in pain sensing. In 2015 a new pain gene was been identified called PRDM12.   The features of people with PRDM12 [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/","og_site_name":"JMG Contact blog","article_published_time":"2016-03-14T19:09:09+00:00","article_modified_time":"2026-02-25T00:15:29+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)","datePublished":"2016-03-14T19:09:09+00:00","dateModified":"2026-02-25T00:15:29+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/"},"wordCount":202,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/","url":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/","name":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2016-03-14T19:09:09+00:00","dateModified":"2026-02-25T00:15:29+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2016\/03\/14\/clinical-features-for-diagnosis-and-management-of-patients-with-prdm12-congenital-insensitivity-to-pain\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain (Contributed by Drs. Geoff Woods and Stella Zhang, for the authors.)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/868","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=868"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/868\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=868"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=868"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=868"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}