New mutations associated with Hirschsprung disease
Title (trans.)
Nuevas mutaciones asociadas a la enfermedad de HirschsprungEntity
UAM. Departamento de Anatomía, Histología y Neurociencia; UAM. Departamento de Bioquímica; Instituto de Investigación Sanitaria Hospital Universitario de La Paz (IdiPAZ)Publisher
Elsevier España, S.L.U.Date
2020-01-23Citation
10.1016/j.anpedi.2019.05.019
Anales de Pediatria 93.4 (2020): 222-227
ISSN
1695-4033DOI
10.1016/j.anpedi.2019.05.019Editor's Version
https://doi.org/10.1016/j.anpedi.2019.05.019Subjects
Hirschsprung; Mutations; RET; MedicinaRights
© 2020 Asociación Española de PediatríaEsta obra está bajo una licencia de Creative Commons Reconocimiento-NoComercial-SinObraDerivada 4.0 Internacional.
Abstract
Introduction: Hirschsprung disease is caused by an impairment in cell migration from the neural crest to the gastrointestinal tract, resulting in an absence of neurons in the myenteric plexus. Many mutations in several genes have been associated to Hirschsprung disease; most of them affecting the RET proto-oncogen pathway. The purpose of this study is the description of novel and known mutations in genes associated to Hirschsprung disease and their prognostic implications. Material and methods: Retrospective analysis of patients with Hirschsprung disease and positive genetic studies evaluated from 1970 to 2013. Results: We found 21 positive genetic studies in the global series, 17 of them involving the RET proto-oncogene. Two of the mutations are novel and they have not been reported in the medical literature. Conclusions: The RET protooncogene is the main gene associated with Hirschsprung disease. There are still multiple unknown mutations related to the pathogenesis of the disease. The study of this gene must be part of the work-up of all patients with Hirschsprung disease, as well as their first degree relatives if the mutation is associated with MEN2A and MEN2B syndromes.
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Google Scholar:Lorente-Ros, Marta
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Andrés Moreno, Ane Miren
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Sánchez-Galán, Alba
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Amiñoso, Cinthia
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García, Sixto
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Lapunzina, Pablo
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Solera García, Jesús
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