A recurrent de novo MAX p.Arg60Gln variant causes a syndromic overgrowth disorder through differential expression of c-Myc target genes

Harris et  al. describe three individuals with overlapping macrocephaly-associated phenotypes carrying a recurrent de novo c.179G>A (p.Arg60Gln) variant in Myc-associated factor X (MAX). MAXArg60Gln binds its target E-box sequence with a lower affinity, meaning more efficient heterodimerization with c-Myc and dysregulated transcriptional activity. c-Myc inhibitors provide a possible therapeutic option for individuals carrying this variant.

Source: The American Journal of Human Genetics - December 22, 2023 Category: Genetics & Stem Cells Authors: Erica L. Harris, Vincent Roy, Martin Montagne, Ailsa M.S. Rose, Helen Livesey, Margot R.F. Reijnders, Emma Hobson, Francis H. Sansbury, Marjolein H. Willemsen, Rolph Pfundt, Daniel Warren, Vernon Long, Ian M. Carr, Han G. Brunner, Eamonn G. Sheridan, Hele Tags: Article Source Type: research