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Study reveals molecular mechanism behind new DOT1L-related disorder

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.

DOT1L Gene Variants Linked to Emerging Neurological Disorder

DOT1L is an evolutionarily conserved gene found in a broad range of species from yeast to man.

New Neurological Disorder Linked to DOT1L Gene Variants

DOT1L gene variants associated with a new neu

<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&nbsp;<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>&nbsp;(Duncan NRI) at Texas Children&rsquo;s Hospital, has discovered that gain-of-function variants in the&nbsp;<em>DOT1L&nbsp;</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&nbsp;<em><u><a href="https://www.cell.com/ajhg/fulltext/S0002-9297(23)00322-1">American Journal of Human Genetics</a></u></em>.</p>

DOT1L gene variants associated with a new neurological disorder