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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
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, Volume 17, No. 1, Year 2003
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Description
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, χ2 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. © 2003 Elsevier Science Ltd. All rights reserved.
Authors & Co-Authors
Zaahl, Monique G.
South Africa, Cape Town
Stellenbosch University, Faculty of Medicine and Health Sciences
South Africa, Stellenbosch
Stellenbosch University
Du Plessis, Lana
South Africa, Cape Town
Stellenbosch University, Faculty of Medicine and Health Sciences
Warnich, Louise
South Africa, Stellenbosch
Stellenbosch University
Kotze, Maritha J.
South Africa, Stellenbosch
Stellenbosch University
South Africa, Cape Town
Genecare Molecular Genetics Pty Ltd.
Moore, Samuel W.
South Africa, Cape Town
Stellenbosch University, Faculty of Medicine and Health Sciences
Statistics
Citations: 18
Authors: 5
Affiliations: 3
Identifiers
Doi:
10.1016/S0890-8508(03)00003-3
ISSN:
08908508
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cross Sectional Study