ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

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 mutatio...

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Main Authors:	Anders Valind, Pernilla Stenström, Sofie Samuelsson, Tord Jonson, Erik A. Eklund
Format:	Article
Language:	English
Published:	Elsevier 2021-08-01
Series:	Journal of Pediatric Surgery Case Reports
Subjects:	Hirschsprung disease ZMIZ1 Enteric nervous system
Online Access:	http://www.sciencedirect.com/science/article/pii/S221357662100110X

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spelling	doaj-57aa661ae6554ea9bd4f80ea3afdb0d42021-06-23T04:20:31ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662021-08-0171101889ZMIZ1-associated neurodevelopmental disorder and Hirschsprung diseaseAnders Valind0Pernilla Stenström1Sofie Samuelsson2Tord Jonson3Erik A. Eklund4Department of Clinical Genetics, Lund University, Lund, Sweden; Department of Pediatrics, Skane University Hospital, Lund University, Lund, Sweden; Corresponding author. Department of Clinical Genetics, Lund University, BMC C13, 221 84 Lund, Sweden.Department of Pediatric Surgery, Skane University Hospital, Lund University, Lund, SwedenDepartment of Clinical Genetics, Lund University, Lund, Sweden; Department of Clinical Genetics and Pathology, Laboratory Service, Skane Healthcare Region, SwedenDepartment of Clinical Genetics, Lund University, Lund, Sweden; Department of Clinical Genetics and Pathology, Laboratory Service, Skane Healthcare Region, SwedenDepartment of Pediatrics, Skane University Hospital, Lund University, Lund, SwedenDe 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.http://www.sciencedirect.com/science/article/pii/S221357662100110XHirschsprung diseaseZMIZ1Enteric nervous system
collection	DOAJ
language	English
format	Article
sources	DOAJ
author	Anders Valind Pernilla Stenström Sofie Samuelsson Tord Jonson Erik A. Eklund
spellingShingle	Anders Valind Pernilla Stenström Sofie Samuelsson Tord Jonson Erik A. Eklund ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease Journal of Pediatric Surgery Case Reports Hirschsprung disease ZMIZ1 Enteric nervous system
author_facet	Anders Valind Pernilla Stenström Sofie Samuelsson Tord Jonson Erik A. Eklund
author_sort	Anders Valind
title	ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
title_short	ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
title_full	ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
title_fullStr	ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
title_full_unstemmed	ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease
title_sort	zmiz1-associated neurodevelopmental disorder and hirschsprung disease
publisher	Elsevier
series	Journal of Pediatric Surgery Case Reports
issn	2213-5766
publishDate	2021-08-01
description	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.
topic	Hirschsprung disease ZMIZ1 Enteric nervous system
url	http://www.sciencedirect.com/science/article/pii/S221357662100110X
work_keys_str_mv	AT andersvalind zmiz1associatedneurodevelopmentaldisorderandhirschsprungdisease AT pernillastenstrom zmiz1associatedneurodevelopmentaldisorderandhirschsprungdisease AT sofiesamuelsson zmiz1associatedneurodevelopmentaldisorderandhirschsprungdisease AT tordjonson zmiz1associatedneurodevelopmentaldisorderandhirschsprungdisease AT erikaeklund zmiz1associatedneurodevelopmentaldisorderandhirschsprungdisease
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ZMIZ1-associated neurodevelopmental disorder and Hirschsprung disease

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