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Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease.
J Pediatr Surg. 2006 Jul; 41(7):1250-4.JP

Abstract

BACKGROUND/PURPOSE

Hirschsprung's disease (HSCR) is a congenital abnormality that can cause an intestinal obstruction. Although HSCR demonstrates a sex-modified polygenic inheritance with contributions from multiple genes, mutations in the RET gene are believed to be the major sign of susceptibility in the development of disease. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse nonwhite population are unclear.

METHODS

All 21 exons and intron/exon boundaries of the RET gene in 18 Korean patients with sporadic HSCR and 84 normal individuals were screened using polymerase chain reaction amplification and direct sequencing.

RESULTS

A total of 11 different nucleotide substitutions were identified. Of these, 2 were new missense mutations (C558Y, cysteine-rich domain; R844W, tyrosine kinase domain) and 9 previously described variants. This study also analyzed the haplotypes for the association between the variants identified with HSCR, but the estimated RET haplotypes did not show any disease risk.

CONCLUSIONS

This study identified additional mutations of RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans.

Authors+Show Affiliations

School of Life Sciences and Biotechnology, Korea University, Seoul 136-701, South Korea.No affiliation info availableNo affiliation info availableNo 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

16818057

Citation

Kim, Jeong-Hyun, et al. "Novel Mutations of RET Gene in Korean Patients With Sporadic Hirschsprung's Disease." Journal of Pediatric Surgery, vol. 41, no. 7, 2006, pp. 1250-4.
Kim JH, Yoon KO, Kim JK, et al. Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease. J Pediatr Surg. 2006;41(7):1250-4.
Kim, J. H., Yoon, K. O., Kim, J. K., Kim, J. W., Lee, S. K., Kong, S. Y., & Seo, J. M. (2006). Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease. Journal of Pediatric Surgery, 41(7), 1250-4.
Kim JH, et al. Novel Mutations of RET Gene in Korean Patients With Sporadic Hirschsprung's Disease. J Pediatr Surg. 2006;41(7):1250-4. PubMed PMID: 16818057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel mutations of RET gene in Korean patients with sporadic Hirschsprung's disease. AU - Kim,Jeong-Hyun, AU - Yoon,Kyong-Oh, AU - Kim,Jeong-Kook, AU - Kim,Jong-Won, AU - Lee,Suk-Koo, AU - Kong,Sun-Young, AU - Seo,Jeong-Meen, PY - 2006/7/5/pubmed PY - 2006/9/22/medline PY - 2006/7/5/entrez SP - 1250 EP - 4 JF - Journal of pediatric surgery JO - J Pediatr Surg VL - 41 IS - 7 N2 - BACKGROUND/PURPOSE: Hirschsprung's disease (HSCR) is a congenital abnormality that can cause an intestinal obstruction. Although HSCR demonstrates a sex-modified polygenic inheritance with contributions from multiple genes, mutations in the RET gene are believed to be the major sign of susceptibility in the development of disease. The allele frequency of polymorphisms was mostly tested in the American and European population, but the data of an ethnically diverse nonwhite population are unclear. METHODS: All 21 exons and intron/exon boundaries of the RET gene in 18 Korean patients with sporadic HSCR and 84 normal individuals were screened using polymerase chain reaction amplification and direct sequencing. RESULTS: A total of 11 different nucleotide substitutions were identified. Of these, 2 were new missense mutations (C558Y, cysteine-rich domain; R844W, tyrosine kinase domain) and 9 previously described variants. This study also analyzed the haplotypes for the association between the variants identified with HSCR, but the estimated RET haplotypes did not show any disease risk. CONCLUSIONS: This study identified additional mutations of RET gene, which represents the first comprehensive genetic dissection of sporadic HSCR disease in Koreans. SN - 1531-5037 UR - https://www.unboundmedicine.com/medline/citation/16818057/Novel_mutations_of_RET_gene_in_Korean_patients_with_sporadic_Hirschsprung's_disease_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0022-3468(06)00196-5 DB - PRIME DP - Unbound Medicine ER -