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Genetic Aspect of Hirschsprung’s Disease

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Hirschsprung’s Disease and the Allied Disorders

Abstract

Hirschsprung’s disease (HSCR) is defined by an absence of enteric neurons of the distal part of the gastrointestinal tract. HSCR results from a failure of the enteric neural crest-derived cells (ENCCs), which give rise to the enteric nervous system (ENS), to migrate, proliferate, differentiate or survive in the bowel wall. This results in clinically severe and sometimes life-threatening bowel obstruction. Developmental biologists and human geneticists are making exceptional progress in understanding the genetic, cellular and molecular events required for normal ENS development, and this progress is in turn leading researchers to explore pathogenesis of HSCR. The objective of this chapter is to provide an overview of the genetics of HSCR, within the context of our current knowledge of ENS development and molecular genetics of human and laboratory models.

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Authors and Affiliations

  1. Department of Pediatric Surgery, Graduate School of Medical Science, Kyushu University, Fukuoka, Japan

    Kosuke Kirino & Koichiro Yoshimaru

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  1. Kosuke Kirino
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  2. Koichiro Yoshimaru
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Correspondence to Kosuke Kirino .

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Editors and Affiliations

  1. Department of Pediatric Surgery, Kyushu University, Fukuoka, Fukuoka, Japan

    Tomoaki Taguchi

  2. Department of Pediatric Surgery, St. Luke’s International Hospital, Chuo-Ku, Tokyo, Japan

    Hiroshi Matsufuji

  3. Department of Pediatric Surgery, Kagoshima University, Kagoshima, Kagoshima, Japan

    Satoshi Ieiri

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Kirino, K., Yoshimaru, K. (2019). Genetic Aspect of Hirschsprung’s Disease. In: Taguchi, T., Matsufuji, H., Ieiri, S. (eds) Hirschsprung’s Disease and the Allied Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-13-3606-5_3

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  • DOI: https://doi.org/10.1007/978-981-13-3606-5_3

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