<i>EDNRB/EDN3</i> and Hirschsprung Disease Type II

McCallion, Andrew S.; Chakravarti, Aravinda

doi:10.1034/j.1600-0749.2001.140305.x

Cited by 100 publications

(62 citation statements)

References 74 publications

(132 reference statements)

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“…We should bear in mind that EDNRB is the receptor for EDN-3, so it is reasonable to assume that the mutations of EDNRB and EDN-3 caused the maldevelopment of the enteric nervous system. Similar to the receptor-ligand relationship between RET and GDNF observed in the etiology of some HD patients, in human fetuses, both EDNRB and EDN-3 have been demonstrated on enteric neurons and gut mesenchyme cells [31] , suggesting that EDN-3 and EDNRB may regulate interactions between neural crest and gut mesenchyme cells, necessary for normal migration. There are reports on HSCR patients with GDNF-RET or NTN-RET gene mutation combinations, as well as a case with mutations in both RET and EDNRB [32][33][34][35][36][37][38][39] .…”

Section: Discussionmentioning

confidence: 80%

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Duan

Zhang²,

Li³

2003

WJG

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AIM:To investigate the mutation of EDNRB gene and EDN-3 gene in sporadic Hirschsprung's disease (HD) in Chinese population. METHODS:Genomic DNA was extracted from bowel tissues of 34 unrelated HD patients which were removed by surgery. Exon 3, 4, 6 of EDNRB gene and Exon 1, 2 of EDN-3 gene were amplified by polymerase chain reaction (PCR) and analyzed by single strand conformation polymorphism (SSCP). RESULTS:EDNRB mutations were detected in 2 of the 13 short-segment HD. One mutant was in the exon 3, the other was in the exon 6. EDN-3 mutation was detected in one of the 13 short-segment HD and in the exon 2. Both EDNRB and EDN-3 mutations were detected in one short-segment HD. No mutations were detected in the ordinary or longsegment HD.

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Section: Discussionmentioning

confidence: 80%

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Duan

Zhang²,

Li³

2003

WJG

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“…Heterozygous EDNRB mutations can predispose to isolated HSCR with incomplete penetrance, while homozygous EDNRB mutations (or compound heterozygous mutations) can result in a more complex phenotype, comprising of HSCR and features of Shah-Waardenburg. 17 It is reported that mutations in the EDNRB gene are found in 5-7% percent of HSCR patients and the length of the aganglionosis is variable. 2,18 Functional studies on EDNRB mutations have hardly been conducted.…”

Section: Introductionmentioning

confidence: 99%

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

et al. 2015

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Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions. Therefore, the reported frequency of pathogenic mutations might be overestimated. We combined mutation analysis with functional assays to determine the frequencies of proven pathogenic RET and EDNRB mutations in HSCR. We sequenced RET and EDNRB in 57 HSCR patients. The identified RET-coding variants were introduced into RET constructs and these were transfected into HEK293 cells to determine RET phosphorylation and activation via ERK. An exon trap experiment was performed to check a possible splice-site mutation. We identified eight rare RET-coding variants, one possible splice-site variant, but no rare EDNRB variants. Western blotting showed that three coding variants p. (Pr270Leu) (Tyr1062Cys)) resulted in reduced ERK activation. Splice-site assays on c.1880-11A4G could not confirm its pathogenicity. Our data suggest that indeed almost half of the identified rare variants are proven pathogenic and that, hence, functional studies are essential for proper genetic counseling.

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“…The endothelin3 (Edn3)/endothelin receptor B (Ednrb) ligand-receptor pair is encoded by the lethal spotting (ls) and piebald spotting (s) coat color genes, respectively. Ednrb is a seven-transmembrane G-protein coupled receptor that responds to the Edn3 and Edn1 ligands (reviewed in McCallion and Chakravarti, 2001). Mice that carry a deletion of the Ednrb locus are almost completely white and develop megacolon .…”

Section: Development Of the Melanocytementioning

confidence: 99%

Mouse coat color mutations: From fancy mice to functional genomics

Steingrı́msson

Copeland

Jenkins

2006

Developmental Dynamics

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Mouse coat color mutations have a long history in biomedical research. The viable and visible phenotype of most coat color mutations has made the pigment cell, the melanocyte, an ideal system for genetic, molecular, and cellular analysis. Molecular cloning and analysis of many of the different coat color mutations have revealed the roles of a diverse range of genes, and today we know more about the pathways and proteins that regulate the development and function of pigment cells than we know about most other cell types in mammalian organisms. Coat color mutations have also provided novel insights into stem cell biology and human diseases, including melanoma. In the future, it will be important to build on this history and knowledge by taking advantage of the extensive repertoire of recently developed genome-wide methodologies, available genomic information, and the powerful methods that have been developed for modifying the mouse genome to systematically dissect the development and function of this important cell type. The usefulness of coat color mutations has just begun to emerge. Developmental Dynamics 235: 2401-2411, 2006.

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EDNRB/EDN3 and Hirschsprung Disease Type II

Cited by 100 publications

References 74 publications

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

Clinical relationship between EDN-3 gene, EDNRB gene and Hirschsprung’s disease

RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling

Mouse coat color mutations: From fancy mice to functional genomics

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