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—having 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.  Our findings provide new insights that could guide future research and influence clinical practice. (By Dr. Ting Chen, https://jmg.bmj.com/content/early/2024/10/04/jmg-2024-110061 )