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A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease.
J Formos Med Assoc. 2006 Apr; 105(4):349-54.JF

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.

Authors+Show Affiliations

Department of Emergency Medicine, National Cheng Kung University Medical College and Hospital, Tainan, Taiwan.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16618617

Citation

Chen, Wen-Chau, et al. "A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy With Hirschsprung Disease." Journal of the Formosan Medical Association = Taiwan Yi Zhi, vol. 105, no. 4, 2006, pp. 349-54.
Chen WC, Chang SS, Sy ED, et al. A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease. J Formos Med Assoc. 2006;105(4):349-54.
Chen, W. C., Chang, S. S., Sy, E. D., & Tsai, M. C. (2006). A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease. Journal of the Formosan Medical Association = Taiwan Yi Zhi, 105(4), 349-54.
Chen WC, et al. A De Novo Novel Mutation of the EDNRB Gene in a Taiwanese Boy With Hirschsprung Disease. J Formos Med Assoc. 2006;105(4):349-54. PubMed PMID: 16618617.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A De Novo novel mutation of the EDNRB gene in a Taiwanese boy with Hirschsprung disease. AU - Chen,Wen-Chau, AU - Chang,Shen-Shun, AU - Sy,Edgar D, AU - Tsai,Ming-Che, PY - 2006/4/19/pubmed PY - 2006/5/12/medline PY - 2006/4/19/entrez SP - 349 EP - 54 JF - Journal of the Formosan Medical Association = Taiwan yi zhi JO - J Formos Med Assoc VL - 105 IS - 4 N2 - 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. SN - 0929-6646 UR - https://www.unboundmedicine.com/medline/citation/16618617/A_De_Novo_novel_mutation_of_the_EDNRB_gene_in_a_Taiwanese_boy_with_Hirschsprung_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0929-6646(09)60128-5 DB - PRIME DP - Unbound Medicine ER -