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Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.
Eur J Hum Genet. 2001 Jun; 9(6):419-23.EJ

Abstract

Hirschsprung's disease (HSCR) is a common cause of intestinal obstruction in neonates with an incidence of one in 5000 live births. The disease occurs due to the absence of parasympathetic neuronal ganglia in the hindgut, resulting in irregular or sustained contraction of the affected segment. DNA samples of 40 unrelated subjects with HSCR were subjected to mutation screening of the RET (REarranged during Transfection) proto-oncogene, the major susceptibility gene for HSCR. Five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) and one previously described mutation (P973L) were identified. Only two of the mutation-positive patients (from different ethnic groups) displayed total colonic aganglionosis, and both were heterozygous for mutation D771N. The potential disease-causing mutations occurred in 20% of individuals, with more males (22.5% representing seven of 31 males) affected than females (12.5% representing one of eight females). This study represents the first comprehensive genetic analysis of this disease in the diverse South African population.

Authors+Show Affiliations

Division of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.No 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

11436122

Citation

Julies, M G., et al. "Novel RET Mutations in Hirschsprung's Disease Patients From the Diverse South African Population." European Journal of Human Genetics : EJHG, vol. 9, no. 6, 2001, pp. 419-23.
Julies MG, Moore SW, Kotze MJ, et al. Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. Eur J Hum Genet. 2001;9(6):419-23.
Julies, M. G., Moore, S. W., Kotze, M. J., & du Plessis, L. (2001). Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. European Journal of Human Genetics : EJHG, 9(6), 419-23.
Julies MG, et al. Novel RET Mutations in Hirschsprung's Disease Patients From the Diverse South African Population. Eur J Hum Genet. 2001;9(6):419-23. PubMed PMID: 11436122.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel RET mutations in Hirschsprung's disease patients from the diverse South African population. AU - Julies,M G, AU - Moore,S W, AU - Kotze,M J, AU - du Plessis,L, PY - 2000/09/01/received PY - 2001/02/05/revised PY - 2001/03/06/accepted PY - 2001/7/4/pubmed PY - 2001/10/12/medline PY - 2001/7/4/entrez SP - 419 EP - 23 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 9 IS - 6 N2 - Hirschsprung's disease (HSCR) is a common cause of intestinal obstruction in neonates with an incidence of one in 5000 live births. The disease occurs due to the absence of parasympathetic neuronal ganglia in the hindgut, resulting in irregular or sustained contraction of the affected segment. DNA samples of 40 unrelated subjects with HSCR were subjected to mutation screening of the RET (REarranged during Transfection) proto-oncogene, the major susceptibility gene for HSCR. Five novel (V202M, E480K, IVS10-2A/G, D771N, IVS19-9C/T) and one previously described mutation (P973L) were identified. Only two of the mutation-positive patients (from different ethnic groups) displayed total colonic aganglionosis, and both were heterozygous for mutation D771N. The potential disease-causing mutations occurred in 20% of individuals, with more males (22.5% representing seven of 31 males) affected than females (12.5% representing one of eight females). This study represents the first comprehensive genetic analysis of this disease in the diverse South African population. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/11436122/Novel_RET_mutations_in_Hirschsprung's_disease_patients_from_the_diverse_South_African_population_ L2 - https://doi.org/10.1038/sj.ejhg.5200650 DB - PRIME DP - Unbound Medicine ER -