{"id":985,"date":"2017-03-31T20:25:55","date_gmt":"2017-03-31T20:25:55","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=985"},"modified":"2017-03-31T20:25:55","modified_gmt":"2017-03-31T20:25:55","slug":"somatic-mosaicism-containing-double-mutations-in-ptch1-revealed-by-generation-of-induced-pluripotent-stem-cells-from-nevoid-basal-cell-carcinoma-syndrome","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/03\/31\/somatic-mosaicism-containing-double-mutations-in-ptch1-revealed-by-generation-of-induced-pluripotent-stem-cells-from-nevoid-basal-cell-carcinoma-syndrome\/","title":{"rendered":"Somatic mosaicism containing double mutations in PTCH1 revealed by generation of induced pluripotent stem cells from nevoid basal cell carcinoma syndrome"},"content":{"rendered":"<p>As next generation sequencers are widely used, somatic mosaicism is thought to be more common than previously expected. We report a mosaic patient with nevoid basal cell carcinoma syndrome, a genetic condition featured by minor anomalies and high prevalence of cancers such as basal cell carcinoma and medulloblastoma. The patient had a germline PTCH1 mutation, c.272delG, and a low prevalence somatic mutation, c.274delT. Since two mutations are located in close proximity, reversion error is likely to be involved in this event rather than a spontaneous mutation. This study is also unique in that mosaicism was initially identified by analysis of iPS cell clones derived from a single cell. (By Prof. Toshiyuki Miyashita, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2017\/03\/31\/jmedgenet-2016-104490\">http:\/\/jmg.bmj.com\/content\/early\/2017\/03\/31\/jmedgenet-2016-104490<\/a> )<a href=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-986\" src=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog-238x300.jpg\" alt=\"\" width=\"238\" height=\"300\" srcset=\"https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog-238x300.jpg 238w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog-768x967.jpg 768w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog-813x1024.jpg 813w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog-300x378.jpg 300w, https:\/\/stg-blogs.bmj.com\/jmg\/files\/2017\/03\/JMG-blog.jpg 880w\" sizes=\"auto, (max-width: 238px) 100vw, 238px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>As next generation sequencers are widely used, somatic mosaicism is thought to be more common than previously expected. We report a mosaic patient with nevoid basal cell carcinoma syndrome, a genetic condition featured by minor anomalies and high prevalence of cancers such as basal cell carcinoma and medulloblastoma. The patient had a germline PTCH1 mutation, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2017\/03\/31\/somatic-mosaicism-containing-double-mutations-in-ptch1-revealed-by-generation-of-induced-pluripotent-stem-cells-from-nevoid-basal-cell-carcinoma-syndrome\/\">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-985","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\/985","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=985"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/985\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=985"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=985"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=985"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}