ArticleWorld journal of gastroenterology2006
Mutation of RET proto-oncogene in Hirschsprung's disease and intestinal neuronal dysplasia.
Article in World journal of gastroenterology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Intestinal neuronal dysplasia presenting as psoas abscess: A case report.Frontiers in surgery · 2022Article
- Identification of potential molecular pathogenesis mechanisms modulated by microRNAs in patients with Intestinal Neuronal Dysplasia type B.Scientific reports · 2019Article
- Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).Pediatric surgery international · 2017Review
- Intestinal neuronal dysplasia type B: A still little known diagnosis for organic causes of intestinal chronic constipation.World journal of gastrointestinal pharmacology and therapeutics · 2016Review
- Chronic intestinal pseudo-obstruction: systematic histopathological approach can clinch vital clues.Virchows Archiv : an international journal of pathology · 2014Article
- Studies of RET gene expression and acetylcholinesterase activity in a series of sporadic Hirschsprung's disease.Pediatric surgery international · 2008Article
- Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients.Journal of human genetics · 2006Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
aimTo investigate the genetic relationship between Hirschsprung's disease (HD) and intestinal neuronal dysplasia (IND) in Chinese population.
methodsPeripheral blood samples were obtained from 30 HD patients, 20 IND patients, 18 HD/IND combined patients and 20 normal individuals as control. Genomic DNA was extracted according to standard procedure. Exons 11,13,15,17 of RET proto-oncogene were amplified by polymerase chain reaction (PCR). The mutations of RET proto-oncogene were analyzed by single strand conformational polymorphism (SSCP) and sequencing of the positive amplified products was performed.
resultsEight germline sequence variants were detected. In HD patients, 2 missense mutations in exon 11 at nucleotide 15165 G-->A (G667S), 2 frameshift mutations in exon 13 at nucleotide 18974 (18974insG), 1 missense mutation in exon 13 at nucleotide 18919 A-->G (K756E) and 1 silent mutation in exon 15 at nucleotide 20692 G-->A(Q916Q) were detected. In HD/IND combined patients, 1 missense mutation in exon 11 at nucleotide 15165 G-->A and 1 silent mutation in exon 13 at nucleotide 18888 T-->G (L745L) were detected. No mutation was found in IND patients and controls.
conclusionMutation of RET proto-oncogene is involved in the etiopathogenesis of HD. The frequency of RET proto-oncogene mutation is quite different between IND and HD in Chinese population. IND is a distinct clinical entity genetically different from HD.
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