IMPE Abstracts

Pathogenic genetic variants in epigenetic regulatory proteins can cause overgrowth syndromes, such as Sotos syndrome due to mutations in NSD1 or Weaver syndrome due to mutations in EZH2. The identified genes encode DNA or histone methyltransferases, primarily serving as epigenetic writers. However, no overgrowth disorder has previously been described in a gene that acts primarily as an epigenetic reader. We studied a 13-year-old male patient with generalized overgrowth of pren...