ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
Valind, Anders LU
; Stenström, Pernilla
LU
; Samuelsson, Sofie
LU
; Jonson, Tord
LU
and Eklund, Erik A.
LU
(2021)
In Journal of Pediatric Surgery Case Reports
71.
- Abstract
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.
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/add66c1d-9b44-4065-bf5a-be61ebc6ef4f
- author
- Valind, Anders
LU
; Stenström, Pernilla
LU
; Samuelsson, Sofie
LU
; Jonson, Tord
LU
and Eklund, Erik A.
LU
- organization
- publishing date
- 2021-08
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- Enteric nervous system, Hirschsprung disease, ZMIZ1
- in
- Journal of Pediatric Surgery Case Reports
- volume
- 71
- article number
- 101889
- publisher
- Elsevier
- external identifiers
-
- scopus:85107699832
- ISSN
- 2213-5766
- DOI
- 10.1016/j.epsc.2021.101889
- language
- English
- LU publication?
- yes
- additional info
- Publisher Copyright: © 2021 The Authors Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
- id
- add66c1d-9b44-4065-bf5a-be61ebc6ef4f
- date added to LUP
- 2021-06-28 17:16:17
- date last changed
- 2022-12-01 08:59:37
@article{add66c1d-9b44-4065-bf5a-be61ebc6ef4f,
abstract = {{<p>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.</p>}},
author = {{Valind, Anders and Stenström, Pernilla and Samuelsson, Sofie and Jonson, Tord and Eklund, Erik A.}},
issn = {{2213-5766}},
keywords = {{Enteric nervous system; Hirschsprung disease; ZMIZ1}},
language = {{eng}},
publisher = {{Elsevier}},
series = {{Journal of Pediatric Surgery Case Reports}},
title = {{ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease}},
url = {{http://dx.doi.org/10.1016/j.epsc.2021.101889}},
doi = {{10.1016/j.epsc.2021.101889}},
volume = {{71}},
year = {{2021}},
}