| Autor: |
Valind, Anders, Stenström, Pernilla, Samuelsson, Sofie, Jonson, Tord, Eklund, Erik A. |
| Zdroj: |
Journal of Pediatric Surgery Case Reports; August 2021, Vol. 71 Issue: 1 |
| Abstrakt: |
De novomutations 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 novomutation in ZMIZ1. Utilizing public gene expression data from mouse we confirm that ZMIZ1is 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 ZMIZ1is a novel putative risk gene for HD. |
| Databáze: |
Supplemental Index |
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