ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

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Sammanfattning

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.

Originalspråkengelska
Artikelnummer101889
TidskriftJournal of Pediatric Surgery Case Reports
Volym71
DOI
StatusPublished - 2021 aug.

Bibliografisk information

Publisher Copyright:
© 2021 The Authors

Copyright:
Copyright 2021 Elsevier B.V., All rights reserved.

Ämnesklassifikation (UKÄ)

  • Neurovetenskaper

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