ArticleAmerican journal of human genetics1996
The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 84 citations in OpenAlex.
- A unique case of late-onset CIPO caused by a missense mutation in the long isoform ofFrontiers in genetics · 2025Article
- Chronic Intestinal Pseudo-obstruction.Clinics in colon and rectal surgery · 2018Review
- Advances in understanding functional variations in the Hirschsprung disease spectrum (variant Hirschsprung disease).Pediatric surgery international · 2017Review
- Neuroenteric Staining as a Tool in the Evaluation of Pediatric Motility Disorders.Current gastroenterology reports · 2015Review
- Classification and diagnostic criteria of variants of Hirschsprung's disease.Pediatric surgery international · 2013Review
- Infantile hypertrophic pyloric stenosis--genetics and syndromes.Nature reviews. Gastroenterology & hepatology · 2012Review
- Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.Investigative ophthalmology & visual science · 2011Article
- Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations.World journal of gastroenterology · 2010Article
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.European journal of human genetics : EJHG · 2009Article
- A novel mutation in the SACS gene associated with a complicated form of spastic ataxia.Journal of neurology · 2008Article
- Molecular cloning and characterization of a novel mouse actin-binding protein Zfp185.Journal of molecular histology · 2008Article
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.American journal of human genetics · 2007Article
- A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.Journal of medical genetics · 2006Article
- Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Article
- Chronic intestinal pseudo-obstruction: treatment and long term follow up of 44 patients.Archives of disease in childhood · 1999Article
- Chronic Intestinal Pseudo-obstruction.Current treatment options in gastroenterology · 1999Article
- Chronic intestinal pseudoobstruction syndrome: clinical analysis, outcome, and prognosis in 105 children. French-Speaking Group of Pediatric Gastroenterology.Digestive diseases and sciences · 1999Article
- Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.Journal of medical genetics · 1997Article
- Identification of a duplication of Xq28 associated with bilateral periventricular nodular heterotopia.American journal of human genetics · 1997Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
The neuronal type of primary chronic idiopathic intestinal pseudoobstruction (CIIP) results from the developmental failure of enteric neurons to migrate or differentiate correctly. This leads to intestinal motility disorders, which are characterized by symptoms and signs of bowel obstruction in the absence of a mechanical obstacle. Most of these conditions are congenital, and among them some are inherited. One syndromic condition characterized by intestinal pseudoobstruction with morphological abnormalities of the argyrophil neurons in the myenteric plexus, associated with short small bowel, malrotation, and pyloric hypertrophy, has been previously described. We have studied a family affected by this disorder, in which the disease appeared to segregate as an X-linked recessive trait. In order to map the CIIP locus in this family, we performed linkage analysis in 26 family members by use of highly polymorphic microsatellite markers from the X chromosome. One of these markers, DXYS154, located in the distal part of Xq28, shows no recombination with a maximum lod score of 2.32. Multipoint analysis excluded linkage with markers spanning other regions of the X chromosome. Our results, integrated with the current genetic and physical map of Xq28, determine the order of loci as cen-DXS15-(CIIPX)-DXS1108/DXYS154-tel. This study establishes, for the first time, the mapping assignment of a neuropathic form of CIIP other than Hirschsprung disease.
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8644737PMC1914695W1508400976What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.