A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, has discovered that gain-of-function variants in the DOT1L gene cause a new disorder.
New Neurological Disorder Linked to DOT1L Gene Variants miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.
<p>A study from the laboratory of Dr. Hugo J. Bellen, a distinguished service professor at Baylor College of Medicine and a principal investigator at the <a href="file:///C:/Users/rxnatara/AppData/Local/Microsoft/Windows/INetCache/Content.Outlook/DJZEC7Z1/nri.texaschildrens.org">Jan and Dan Duncan Neurological Research Institute</a> (Duncan NRI) at Texas Children’s Hospital, has discovered that gain-of-function variants in the <em>DOT1L </em>gene cause a new disorder. Further studies revealed that the majority of the symptoms in the patients were surprisingly due to an increase in the enzymatic activity of a histone methylase encoded by this gene. This study was published in the <em><u><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(23)00322-1">American Journal of Human Genetics</a></u></em>.</p>