A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease

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Title:	A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease
Authors:	Chen, W.-C.;Chang, S.-S.;Sy, E.D.;Tsai, M.-C.
Keywords:	EDNRB gene;Hirschsprung disease;Taiwanese
Date:	2006
Issue Date:	2017-08-08T08:35:42Z (UTC)
ISSN:	9296646
Abstract:	Hirschsprung disease (HSCR) is a congenital disorder characterized by an absence of ganglion cells in the nerve plexuses of the lower digestive tract. Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR. All eight genes are involved in the early development of the enteric nervous system, and most act through two distinct biochemical pathways mediated by RET and EDNRB. Mutations in RET and EDNRB account for up to 50% and 5% of HSCR cases in the general population, respectively. Interaction between these two signaling pathways could modify RET expression and, therefore, HSCR phenotype. Here, we report the case of a 1-year-old Taiwanese boy who presented with abdominal distension since birth and bilious vomiting after feeding. HSCR (short-segment type) was diagnosed based on X-ray, lower gastrointestinal series and biopsy findings. Mutation analysis revealed a heterozygous T>C missense mutation in exon 1 of the EDNRB gene, that substitutes the highly conserved cysteine-90 residue in the extracellular domain of the G protein-coupled receptor with an arginine residue (C90R). No RET gene mutation was detected in this patient. ?2006 Elsevier & Formosan Medical Association.
URI:	https://www.scopus.com/inward/record.uri?eid=2-s2.0-33645312945&partnerID=40&md5=6f87878a671dddc2b0dad68d37228869 https://ir.csmu.edu.tw:8080/ir/handle/310902500/18172
Relation:	Journal of the Formosan Medical Association 105(4) ,349-354
Appears in Collections:	[School of Medicine] Journal paper

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