{"id":2011,"date":"2024-10-08T13:30:05","date_gmt":"2024-10-08T13:30:05","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2011"},"modified":"2026-02-22T01:30:15","modified_gmt":"2026-02-22T01:30:15","slug":"ubtf-haploinsufficiency-associated-with-ubtf-related-global-developmental-delay-and-distinctive-facial-features-without-neuroregression","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2024\/10\/08\/ubtf-haploinsufficiency-associated-with-ubtf-related-global-developmental-delay-and-distinctive-facial-features-without-neuroregression\/","title":{"rendered":"UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Ting Chen)"},"content":{"rendered":"

The UBTF gene produces two important proteins, UBTF1 and UBTF2. A specific change in the UBTF gene, called a gain-of-function mutation, has been linked to a condition called CONDBA. However, until now, there haven’t been any reports of patients with a different kind of issue\u2014having only one working copy of the UBTF gene (this is called UBTF haploinsufficiency). In our study, we discovered three unrelated patients with this issue through a detailed genetic analysis called trio whole exome sequencing. These patients had common symptoms like special facial features, intellectual disabilities, difficulty with social interactions, and delays in language and movement development.\u00a0 Our findings provide new insights that could guide future research and influence clinical practice. (https:\/\/jmg.bmj.com\/content\/early\/2024\/10\/04\/jmg-2024-110061<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

The UBTF gene produces two important proteins, UBTF1 and UBTF2. A specific change in the UBTF gene, called a gain-of-function mutation, has been linked to a condition called CONDBA. However, until now, there haven’t been any reports of patients with a different kind of issue\u2014having only one working copy of the UBTF gene (this is […]<\/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-2011","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nUBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Ting Chen) - 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\/2024\/10\/08\/ubtf-haploinsufficiency-associated-with-ubtf-related-global-developmental-delay-and-distinctive-facial-features-without-neuroregression\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Ting Chen) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The UBTF gene produces two important proteins, UBTF1 and UBTF2. A specific change in the UBTF gene, called a gain-of-function mutation, has been linked to a condition called CONDBA. 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