ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

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De novo mutations in the gene encoding transcription factor ZMIZ1, located on chromosome 10q22, were recently found to be associated with a novel neurodevelopmental syndrome [1]. In this case report we present a patient with developmental delay and Hirschsprung disease, who carries a de novo mutation in ZMIZ1. Utilizing public gene expression data from mouse we confirm that ZMIZ1 is indeed expressed in progenitors of the enteric nervous system (ENS) as well as in a subpopulation of ENS neurons in the adult mouse and based on this we then propose that ZMIZ1 is a novel putative risk gene for HD.

Original languageEnglish
Article number101889
JournalJournal of Pediatric Surgery Case Reports
Publication statusPublished - 2021 Aug

Subject classification (UKÄ)

  • Neurosciences

Free keywords

  • Enteric nervous system
  • Hirschsprung disease
  • ZMIZ1


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