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Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome.
Mol Cell Probes. 2003 Feb; 17(1):49-54.MC

Abstract

Several genes have been implicated in the pathogenesis of Hirschsprung's disease (HSCR). In a previous study performed, five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) mutations and one previously described mutation (P937L) have been identified in the RET proto-oncogene in 20% of the study population. To further investigate the involvement of other genes, mutation analysis of the endothelin-B receptor (EDNRB) gene was performed in 52 unrelated sporadic HSCR patients, including 38 non-syndromic and 14 patients with HSCR and Down's syndrome. Six novel (178G/A, 552C/T, 561C/T, 702C/T, IVS3-6C/T and IVS4 + 3A/G) sequence variants and one previously described (831G/A) polymorphism were identified. Statistically significant differences were achieved for six (178G/A, 552C/T, 561C/T, 702C/T, IVS3-6C/T and 831G/A) of these variants. The T-allele of the 561C/T polymorphism was over represented in the HSCR/Down's syndrome patient group (36% representing 5 of 14) compared to normal controls (6% representing 5 of 84) (p < 0.002, chi(2) with Yates correction = 12.14), suggesting that the 561C/T variant is associated with a low penetrance effect in patients with this complex phenotype. Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype.

Authors+Show Affiliations

Division of Human Genetics, Faculty of Health Sciences, University of Stellenbosch, Tygerberg, South Africa. mjulies@sun.ac.zaNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

12628594

Citation

Zaahl, M G., et al. "Significance of Novel endothelin-B Receptor Gene Polymorphisms in Hirschsprung's Disease: Predominance of a Novel Variant (561C/T) in Patients With Co-existing Down's Syndrome." Molecular and Cellular Probes, vol. 17, no. 1, 2003, pp. 49-54.
Zaahl MG, du Plessis L, Warnich L, et al. Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Mol Cell Probes. 2003;17(1):49-54.
Zaahl, M. G., du Plessis, L., Warnich, L., Kotze, M. J., & Moore, S. W. (2003). Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. Molecular and Cellular Probes, 17(1), 49-54.
Zaahl MG, et al. Significance of Novel endothelin-B Receptor Gene Polymorphisms in Hirschsprung's Disease: Predominance of a Novel Variant (561C/T) in Patients With Co-existing Down's Syndrome. Mol Cell Probes. 2003;17(1):49-54. PubMed PMID: 12628594.
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TY - JOUR T1 - Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome. AU - Zaahl,M G, AU - du Plessis,L, AU - Warnich,L, AU - Kotze,M J, AU - Moore,S W, PY - 2003/3/12/pubmed PY - 2003/12/3/medline PY - 2003/3/12/entrez SP - 49 EP - 54 JF - Molecular and cellular probes JO - Mol Cell Probes VL - 17 IS - 1 N2 - Several genes have been implicated in the pathogenesis of Hirschsprung's disease (HSCR). In a previous study performed, five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) mutations and one previously described mutation (P937L) have been identified in the RET proto-oncogene in 20% of the study population. To further investigate the involvement of other genes, mutation analysis of the endothelin-B receptor (EDNRB) gene was performed in 52 unrelated sporadic HSCR patients, including 38 non-syndromic and 14 patients with HSCR and Down's syndrome. Six novel (178G/A, 552C/T, 561C/T, 702C/T, IVS3-6C/T and IVS4 + 3A/G) sequence variants and one previously described (831G/A) polymorphism were identified. Statistically significant differences were achieved for six (178G/A, 552C/T, 561C/T, 702C/T, IVS3-6C/T and 831G/A) of these variants. The T-allele of the 561C/T polymorphism was over represented in the HSCR/Down's syndrome patient group (36% representing 5 of 14) compared to normal controls (6% representing 5 of 84) (p < 0.002, chi(2) with Yates correction = 12.14), suggesting that the 561C/T variant is associated with a low penetrance effect in patients with this complex phenotype. Detection of the 178G/A polymorphism in only non-syndromic HSCR patients, provide further support for an important role of specific sequence variants in the EDNRB gene in the HSCR/Down's syndrome phenotype. SN - 0890-8508 UR - https://www.unboundmedicine.com/medline/citation/12628594/Significance_of_novel_endothelin_B_receptor_gene_polymorphisms_in_Hirschsprung's_disease:_predominance_of_a_novel_variant__561C/T__in_patients_with_co_existing_Down's_syndrome_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0890850803000033 DB - PRIME DP - Unbound Medicine ER -