{"id":766,"date":"2015-06-04T18:45:30","date_gmt":"2015-06-04T18:45:30","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=766"},"modified":"2015-06-04T18:45:30","modified_gmt":"2015-06-04T18:45:30","slug":"breakpoint-mapping-by-whole-genome-sequencing-identifies-pth2r-gene-disruption-in-a-patient-with-midline-craniosynostosis-and-a-de-novo-balanced-chromosomal-rearrangement","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/04\/breakpoint-mapping-by-whole-genome-sequencing-identifies-pth2r-gene-disruption-in-a-patient-with-midline-craniosynostosis-and-a-de-novo-balanced-chromosomal-rearrangement\/","title":{"rendered":"Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement"},"content":{"rendered":"<p>Craniosynostosis (CRS) is premature closure of cranial sutures, which is caused by either a gene mutation or environmental factors or both. Herein we found a gene mutation causing midline non-syndromic craniosynostosis in a 15-month-old boy. Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and 2q34. An intronic break of the <em>PTH2R<\/em> gene was detected by whole genome sequencing and fluorescence <em>in situ<\/em> hybridization analysis finally confirmed disruption of <em>PTH2R<\/em>. This addition of <em>PTH2R<\/em> to the list of genes associated with CRS expands our understanding of the development of CRS. (By Dr. Juwon Kim, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/04\/jmedgenet-2015-103001\">http:\/\/jmg.bmj.com\/content\/early\/2015\/06\/04\/jmedgenet-2015-103001<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Craniosynostosis (CRS) is premature closure of cranial sutures, which is caused by either a gene mutation or environmental factors or both. Herein we found a gene mutation causing midline non-syndromic craniosynostosis in a 15-month-old boy. Conventional chromosome study revealed a complex paracentric inversion involving 2q14.3 and 2q34, and multicolor banding refined breakpoints to 2q14 and [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2015\/06\/04\/breakpoint-mapping-by-whole-genome-sequencing-identifies-pth2r-gene-disruption-in-a-patient-with-midline-craniosynostosis-and-a-de-novo-balanced-chromosomal-rearrangement\/\">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-766","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\/766","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=766"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/766\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=766"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=766"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=766"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}