{"id":2084,"date":"2025-07-12T18:55:56","date_gmt":"2025-07-12T18:55:56","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=2084"},"modified":"2026-02-22T01:04:07","modified_gmt":"2026-02-22T01:04:07","slug":"commentary-on-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\/2025\/07\/12\/commentary-on-ubtf-haploinsufficiency-associated-with-ubtf-related-global-developmental-delay-and-distinctive-facial-features-without-neuroregression\/","title":{"rendered":"Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Tony YAMMINE)"},"content":{"rendered":"

We describe the clinical and genetic features of 4 additional cases with single nucleotide variants in UBTF predicted to induce haploinsufficiency and a large deletion encompassing UBTF. Two of these individuals are adult confirming the lack of neuroregression associated with haploinsufficiency of UBTF in contrast to childhood-onset neurodegeneration with brain atrophy (CONDBA) caused by the recurrent Glu210Lys gain of function variant. The significantly milder phenotype associated with UBTF haploinsufficiency compared to the symptoms of CONDBA strengthens the argument for considering a RNAse H1 allele-specific oligonucleotide antisense approach in individuals with CONDBA. (https:\/\/jmg.bmj.com\/content\/early\/2025\/07\/09\/jmg-2025-110686<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

We describe the clinical and genetic features of 4 additional cases with single nucleotide variants in UBTF predicted to induce haploinsufficiency and a large deletion encompassing UBTF. Two of these individuals are adult confirming the lack of neuroregression associated with haploinsufficiency of UBTF in contrast to childhood-onset neurodegeneration with brain atrophy (CONDBA) caused by the […]<\/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-2084","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nCommentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Tony YAMMINE) - 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\/2025\/07\/12\/commentary-on-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=\"Commentary on UBTF haploinsufficiency associated with UBTF-related global developmental delay and distinctive facial features without neuroregression (Contributed by Dr. Tony YAMMINE) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We describe the clinical and genetic features of 4 additional cases with single nucleotide variants in UBTF predicted to induce haploinsufficiency and a large deletion encompassing UBTF. 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