ArticleJournal of medical genetics1994
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
Article in Journal of medical genetics, 1994. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Pediatric surgery international · 2014Pooled it
- The gut microbiota-enteric nervous system axis: from bidirectional programming to precision therapeutics in digestive diseases.Frontiers in cellular and infection microbiology · 2026Review
- Comprehensive characterization of the genetic landscape of familial Hirschsprung's disease.World journal of pediatrics : WJP · 2023Review
- Review
- The enteric nervous system in gastrointestinal disease etiology.Cellular and molecular life sciences : CMLS · 2021Review
- Using genomic resources for linkage analysis in Peromyscus with an application for characterizing Dominant Spot.BMC genomics · 2020Article
- The down-regulation of neuroligin-2 and the correlative clinical significance of serum GABA over-expression in Hirschsprung's disease.Neurochemical research · 2014Article
- Expression and significance of neuroligins in myenteric cells of Cajal in Hirschsprung's disease.PloS one · 2013Article
- Heparin-binding epidermal growth factor-like growth factor promotes murine enteric nervous system development and enteric neural crest cell migration.Journal of pediatric surgery · 2012Article
- Genetic basis of Hirschsprung's disease.Pediatric surgery international · 2009Review
- Renal aplasia in humans is associated with RET mutations.American journal of human genetics · 2008Article
- A human yeast artificial chromosome containing the multiple endocrine neoplasia type 2B Ret mutation does not induce medullary thyroid carcinoma but does support the growth of kidneys and partially rescues enteric nervous system development in Ret-deficient mice.The American journal of pathology · 2005Article
- Article
- A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.Proceedings of the National Academy of Sciences of the United States of America · 2000Article
- Congenital central hypoventilation syndrome and Hirschsprung's disease.Archives of disease in childhood · 1998Review
- Acetylcholine release and the cholinergic genomic locus.Molecular neurobiology · 1998Review
- Hirschsprung's disease as a neurochristopathy.Pediatric surgery international · 1997Review
- Hirschprung's disease.Archives of disease in childhood · 1996Review
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hirschsprung's disease (aganglionic megacolon, HSCR) is a frequent condition of unknown origin (1/5000 live births) resulting in intestinal obstruction in neonates and severe constipation in infants and adults. In the majority of cases (80%), the aganglionic tract involves the rectum and the sigmoid colon only (short segment HSCR), while in 20% of cases it extends toward the proximal end of the colon (long segment HSCR). In a previous study, we mapped a gene for long segment familial HSCR to the proximal long arm of chromosome 10 (10q11.2). Further linkage analyses in familial HSCR have suggested tight linkage of the disease gene to the RET protoncogene mapped to chromosome 10q11.2. Recently, nonsense and missense mutations of RET have been identified in HSCR patients. However, the question of whether mutations of the RET gene account for both long segment and short segment familial HSCR remained unanswered. We have performed genetic linkage analyses in 11 long segment HSCR families and eight short segment HSCR families using microsatellite DNA markers of chromosome 10q. In both anatomical forms, tight pairwise linkage with no recombinant events was observed between the RET proto-oncogene locus and the disease locus (Zmax = 2.16 and Zmax = 5.38 for short segment and long segment HSCR respectively at 0 = 0%) Multipoint linkage analyses performed in the two groups showed that the maximum likelihood estimate was at the RET locus. Moreover, we show that point mutations of the RET proto-oncogene occur either in long segment or in short segment HSCR families and we provide evidence for incomplete penetrance of the disease causing mutation. These data suggest that the two anatomical forms of familial HSCR, which have been separated on the basis of clinical and genetic criteria, may be regarded as the variable clinical expression of mutations at the RET locus.
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