Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease).
Abstract: The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white, or nearly all white, coat. They also present clinically with an intestinal obstruction that proves fatal within the first few days of life. The LWFS involves both melanocytes and intestinal ganglion cells, and appears to result from a genetic defect involving neural crest cells. This report describes pathologic studies of two recent cases of LWFS. Two different hypothetical models of inheritance of LWFS are presented and discussed.
Publication Date: 1990-07-01 PubMed ID: 2363434DOI: 10.1002/ajmg.1320360319Google Scholar: Lookup
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- Journal Article
Summary
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This article discusses lethal white foal syndrome (LWFS), a genetic defect in overo spotted horses. Similar to Hirschsprung disease in humans, foals with this condition usually show a nearly all white coat and die from intestinal obstruction in the first few days of their life. The research paper details pathological studies of LWFS and proposes two possible inheritance models.
Overview and Identification of Lethal White Foal Syndrome
- The research paper initially discusses what Lethal White Foal Syndrome (LWFS) is. LWFS is a congenital abnormality commonly found in overo spotted horses. This syndrome is considered a comparative model for Hirschsprung disease in humans.
- Foals with this particular syndrome exhibit almost completely white coats. Symptoms also include intestinal obstruction, which ultimately proves fatal within the first few days of the foal’s life.
- In this context, the LWFS seems to involve melanocytes (pigment-producing cells) and intestinal ganglion cells, indicating it is rooted in neural crest cells – a group of cells in embryos that diversify into various cell types.
Pathologic Studies of the Syndrome
- The paper also describes pathologic studies carried out on two separate cases of LWFS. These studies help to provide more insight into the nature of the syndrome, laying the groundwork for understanding its impact, symptomatology, and predicting its course.
Hypothesizing Inheritance Models of LWFS
- The researchers suggest two different theoretical models of inheritance for the LWFS. Inheritance models help scientists understand how certain traits or diseases are passed from parents to offspring. LWFS, being a genetically rooted syndrome, is likely to have an inheritance model, but the exact model is yet to be confirmed by the scientific community.
- The two models proposed by the researchers are not discussed in detail in the abstract, but they form a central part of the research, for the models are key to understanding how the syndrome is transmitted and how it could be possibly managed or even prevented in the future.
Cite This Article
APA
McCabe L, Griffin LD, Kinzer A, Chandler M, Beckwith JB, McCabe ER.
(1990).
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease).
Am J Med Genet, 36(3), 336-340.
https://doi.org/10.1002/ajmg.1320360319 Publication
Researcher Affiliations
- Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030.
MeSH Terms
- Animals
- Disease Models, Animal
- Genes, Dominant
- Hirschsprung Disease / genetics
- Horse Diseases / genetics
- Horses
- Intestinal Obstruction / genetics
- Intestinal Obstruction / veterinary
- Mutation
- Syndrome
Citations
This article has been cited 14 times.- Chen Z, Zheng B, Yang H, Fang Z, Liu Q, Zheng Q. Analysis of the Effect of Laparoscopic and Open Surgical Treatment in Children with Congenital Megacolon.. Comput Intell Neurosci 2022;2022:2669294.
- Savel S, Sombé P. Are dogs with congenital hearing and/or vision impairments so different from sensory normal dogs? A survey of demographics, morphology, health, behaviour, communication, and activities.. PLoS One 2020;15(9):e0230651.
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- Lühken G, Fleck K, Pauciullo A, Huisinga M, Erhardt G. Familiar hypopigmentation syndrome in sheep associated with homozygous deletion of the entire endothelin type-B receptor gene.. PLoS One 2012;7(12):e53020.
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- Gariepy CE, Williams SC, Richardson JA, Hammer RE, Yanagisawa M. Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease.. J Clin Invest 1998 Sep 15;102(6):1092-101.
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