{"id":948,"date":"2017-06-01T22:55:49","date_gmt":"2017-06-01T22:55:49","guid":{"rendered":"http:\/\/depts.washington.edu\/rablab\/?p=948"},"modified":"2017-06-01T22:55:49","modified_gmt":"2017-06-01T22:55:49","slug":"longitudinal-study-on-16p11-2-deletion-vs-duplication","status":"publish","type":"post","link":"https:\/\/depts.washington.edu\/rablab\/2017\/06\/01\/longitudinal-study-on-16p11-2-deletion-vs-duplication\/","title":{"rendered":"Longitudinal study on 16p11.2 deletion vs duplication"},"content":{"rendered":"<p>The 16p11.2 deletion or duplication mutation is found on chromosome 16, and prevalent in approximately 1% of people with ASD.\u00a0 The findings of a longitudinal study about 16p11.2 deletion and duplication suggest distinct developmental trajectories.\u00a0 Fifty-six children with these mutations (33 with a 16p11.2 deletion and 23 with a duplication) were followed for several years in order to observe developmental changes.\u00a0 Spectrum News posted a great article about the study, performed by the Bernier Lab and colleagues. Below are excerpts pulled from the article, and the full text can be found here<a href=\"https:\/\/spectrumnews.org\/news\/chromosome-16-mutations-augur-distinct-developmental-paths\/\">:\u00a0https:\/\/spectrumnews.org\/news\/chromosome-16-mutations-augur-distinct-developmental-paths\/<\/a><!-- This site is optimized with the Yoast SEO plugin v4.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ --><!-- \/ Yoast SEO plugin. --><\/p>\n<div class=\"blur-wrap\">\n<div id=\"content-container\" class=\"container\">\n<div id=\"content-row\" class=\"row\">\n<article>\n<ul>\n<li>Deletions typically lead to an <a href=\"https:\/\/spectrumnews.org\/wiki\/macrocephaly\/\" target=\"_blank\" rel=\"noopener noreferrer\">enlarged head<\/a> and <a href=\"https:\/\/spectrumnews.org\/news\/rare-deletions-on-chromosome-16-tie-autism-to-obesity\/\" target=\"_blank\" rel=\"noopener noreferrer\">obesity<\/a>, whereas duplications result in a <a href=\"https:\/\/spectrumnews.org\/news\/autism-linked-chromosomal-region-regulates-brain-size\/\" target=\"_blank\" rel=\"noopener noreferrer\">smaller head<\/a> and <a href=\"https:\/\/spectrumnews.org\/news\/chromosome-16-duplication-raises-risk-of-extreme-thinness\/\" target=\"_blank\" rel=\"noopener noreferrer\">low body weight<\/a>. Both mutations are associated with <a href=\"https:\/\/spectrumnews.org\/news\/only-subset-of-chromosome-16-variants-linked-to-autism\/\" target=\"_blank\" rel=\"noopener noreferrer\">language problems, intellectual disability<\/a> and autism.<\/li>\n<li>The children with a deletion showed declines in motor and social skills, whereas those with a duplication remained relatively stable in these areas. Both groups of children showed an increase in verbal IQ &#8212; which is expected with age &#8212; but their behaviors and nonverbal IQ remained relatively stable.<\/li>\n<li>The researchers did not detect any patterns that distinguish the subset of deletion carriers with autism from the rest of the children with the deletion.<\/li>\n<li>Among children with a duplication, those who have autism have weaker communication and social skills and lower verbal and nonverbal IQs at age 2 than do those without autism. They also show losses in motor skills and greater gains in verbal IQ with age than those without autism.<\/li>\n<\/ul>\n<p>Bernier R. <i>et al. Am. J. Med. Genet. B <\/i><i>Neuropsychiatr<\/i><i>. Genet. <\/i><b>174<\/b>, 367-380 (2017) <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28349640\" target=\"_blank\" rel=\"noopener noreferrer\">PubMed<\/a><\/p>\n<p><!-- This site is optimized with the Yoast SEO plugin v4.4 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ --><!-- \/ Yoast SEO plugin. --><\/p>\n<div class=\"blur-wrap\"><\/div>\n<\/article>\n<\/div>\n<\/div>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>The 16p11.2 deletion or duplication mutation is found on chromosome 16, and prevalent in approximately 1% of people with ASD.\u00a0 The findings of a longitudinal study about 16p11.2 deletion and duplication suggest distinct developmental trajectories.\u00a0 Fifty-six children with these mutations (33 with a 16p11.2 deletion and 23 with a duplication) were followed for several years &hellip; <a href=\"https:\/\/depts.washington.edu\/rablab\/2017\/06\/01\/longitudinal-study-on-16p11-2-deletion-vs-duplication\/\" class=\"more-link\">Continue reading <span class=\"screen-reader-text\">Longitudinal study on 16p11.2 deletion vs duplication<\/span> <span class=\"meta-nav\">&rarr;<\/span><\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-948","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"_links":{"self":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/posts\/948","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/comments?post=948"}],"version-history":[{"count":1,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/posts\/948\/revisions"}],"predecessor-version":[{"id":949,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/posts\/948\/revisions\/949"}],"wp:attachment":[{"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/media?parent=948"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/categories?post=948"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/depts.washington.edu\/rablab\/wp-json\/wp\/v2\/tags?post=948"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}