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Article

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Journal of medical genetics - 1 Oct 1999

Borrego S, Sáez M E, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C

Abstract excerpt

Hirschsprung disease (HSCR) is a common genetic disorder presenting with functional intestinal obstruction secondary to enteric aganglionosis. HSCR can be familial or sporadic. Although five putative susceptibility genes have been identified, only germline mutations in the RET proto-oncogene account for a significant minority (up to 50%) of familial HSCR; 3% of sporadic HSCR in a population based series carry RET...

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Identifiers

PMID: 10528857
DOI: 10.1136/jmg.36.10.771
PMCID: PMC1734238

Genes

RET

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Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.PMID 10528857Read ↗

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.Semantic proximity Read ↗

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease.Semantic proximity Read ↗

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.Semantic proximity Read ↗

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.Semantic proximity Read ↗

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.Semantic proximity Read ↗

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma.Semantic proximity Read ↗

RET polymorphisms and the risk of Hirschsprung's disease in a Chinese population.Semantic proximity Read ↗

Single nucleotide polymorphisms in the RET gene and their correlations with Hirschsprung disease phenotype.Semantic proximity Read ↗

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR)Semantic proximity Read ↗

Association analysis of the RET proto-oncogene with Hirschsprung disease in the Han Chinese population of southeastern China.Semantic proximity Read ↗

RET variants and haplotype analysis in a cohort of Czech patients with Hirschsprung disease.Semantic proximity Read ↗

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families.Semantic proximity Read ↗

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